cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.15468/dl.8g8v4t
title: Occurrence Download

description: A dataset containing 3 species occurrences available in GBIF matching the query:
{
 "and" : [
 "PublishingOrg is one of (8edbbde0-055e-11d8-b850-b8a03c50a862, bc092ff0-02e4-11dc-991f-b8a03c50a862, ccd1ddc0-6c21-11de-8224-b8a03c50a862)",
 "TaxonKey is Anomalepis flavapices Peters, 1957"
 ]
}

 The dataset includes 3 records from 3 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0023095-230530130749713/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.rx9z84
title: Occurrence Download

description: A dataset containing 0 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Porifera",
 "DatasetKey is SILENE-FAUNE-PACA - Parc_Naturel_Régional_du_Luberon_2017_12_18",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "Geometry POLYGON ((-25.03991 31.75, 41.65954 31.75, 41.65954 71.53037, -25.03991 71.53037, -25.03991 31.75))"
 ]
}

 The dataset includes 0 records from 0 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0208291-230224095556074/datasets/export for details.
DOI: 10.15468/dl.sjky6n
title: Occurrence Download

description: A dataset containing 256 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Prasophyllum striatum R.Br."
 ]
}

 The dataset includes 256 records from 27 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0094423-230530130749713/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.nu89p7
title: Occurrence Download

description: A dataset containing 0 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Porifera",
 "DatasetKey is Expertise Indice de Qualité Ecologique (IQE) du Golf de Vidauban en 2014 - Données espèces-Expertise Indice de Qualité Ecologique (IQE) Golf de Vidauban 2014",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "Geometry POLYGON ((-25.03991 31.75, 41.65954 31.75, 41.65954 71.53037, -25.03991 71.53037, -25.03991 31.75))"
 ]
}

 The dataset includes 0 records from 0 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0208297-230224095556074/datasets/export for details.
DOI: 10.15468/dl.vj3hc3
title: Occurrence Download

description: A dataset containing 440262 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Country is United States of America",
 "DatasetKey is EOD – eBird Observation Dataset",
 "GadmGid is USA.33.32_1",
 "OccurrenceStatus is Present",
 "Year 2021-2021"
 ]
}

 The dataset includes 440262 records from 1 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0009920-230530130749713/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.7w3ppv
title: Occurrence Download

description: A dataset containing 480 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Lilium cernuum Kom."
 ]
}

 The dataset includes 480 records from 51 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0009468-230530130749713/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.53tnes
title: Occurrence Download

description: A dataset containing 2315 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Paralabrax maculatofasciatus (Steindachner, 1868)"
 ]
}

 The dataset includes 2315 records from 56 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0127216-230530130749713/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.vq8a88
title: Occurrence Download

description: A dataset containing 9 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Evolvulus piurensis Ooststr."
 ]
}

 The dataset includes 9 records from 6 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0208299-230224095556074/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.8hb37w
title: Occurrence Download

description: A dataset containing 1787 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Linanthus dichotomus Benth."
 ]
}

 The dataset includes 1787 records from 81 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0009931-230530130749713/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.rbwwvd
title: Occurrence Download

description: A dataset containing 31740 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Geometry POLYGON((-1.05659 53.94949,-1.0594 53.94997,-1.05978 53.94769,-1.0597 53.94649,-1.05963 53.94527,-1.05953 53.94395,-1.05713 53.94194,-1.05556 53.94241,-1.05462 53.94208,-1.05395 53.94112,-1.05346 53.9401,-1.05277 53.93897,-1.05118 53.93759,-1.04923 53.9377,-1.04763 53.93818,-1.04994 53.94052,-1.04648 53.94145,-1.0461 53.94113,-1.04539 53.9415,-1.04868 53.94501,-1.04693 53.94542,-1.0457 53.94585,-1.04699 53.94696,-1.04592 53.94738,-1.0443 53.94769,-1.04287 53.94781,-1.04252 53.94741,-1.04313 53.94726,-1.04259 53.94676,-1.04297 53.94645,-1.04239 53.94598,-1.04266 53.94555,-1.04174 53.94525,-1.03827 53.94618,-1.03654 53.94452,-1.0336 53.94471,-1.03289 53.94472,-1.03021 53.94453,-1.02788 53.94478,-1.02744 53.94476,-1.02528 53.94545,-1.02288 53.94641,-1.02053 53.94708,-1.01876 53.94758,-1.01911 53.94818,-1.01668 53.94867,-1.01588 53.94703,-1.01379 53.94932,-1.01253 53.9513,-1.01767 53.95484,-1.02063 53.95351,-1.02249 53.95484,-1.02533 53.95403,-1.02778 53.95355,-1.02928 53.95334,-1.02989 53.95311,-1.03134 53.95124,-1.03142 53.95075,-1.0308 53.95059,-1.03084 53.95026,-1.03114 53.95009,-1.03157 53.95022,-1.03269 53.95009,-1.03362 53.94982,-1.03442 53.94933,-1.03596 53.94915,-1.03752 53.94876,-1.03874 53.9484,-1.04023 53.94798,-1.0421 53.94754,-1.04442 53.94977,-1.04471 53.95011,-1.04496 53.95083,-1.04504 53.95101,-1.04887 53.9509,-1.04931 53.95115,-1.05 53.95123,-1.0505 53.95116,-1.05089 53.95099,-1.05316 53.95001,-1.05421 53.94989,-1.05556 53.95014,-1.05632 53.9501,-1.05668 53.94994,-1.05676 53.94979,-1.05658 53.94965,-1.05659 53.94949))",
 "License is one of (CC0 1.0, CC-BY 4.0, CC-BY-NC 4.0)"
 ]
}

 The dataset includes 31740 records from 60 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0051108-230530130749713/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.vfhac8
title: Occurrence Download

description: A dataset containing 193 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is one of (Fraxinus greggii)",
 "StateProvince is one of (Mexico Gulf, Mexico Northeast, Mexico Northwest, Mexico Southwest, Texas)",
 "BasisOfRecord is Specimen"
 ]
}

 The dataset includes 193 records from 24 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013946-251009101135966/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.t5p9pg
title: Occurrence Download

description: A dataset containing 0 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is one of (Solenogastres)",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "Year is greater than or equal to 1980",
 "OccurrenceStatus is Present",
 {
 "not" : {
 "BasisOfRecord" : [
 "is one of (Fossil, Living Specimen)"
 ]
 }
 },
 "Geometry POLYGON((110 -50,120 -50,120 -40,110 -40,110 -50))"
 ]
}

 The dataset includes 0 records from 0 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013952-251009101135966/datasets/export for details.
DOI: 10.15468/dl.emr336
title: Occurrence Download

description: A dataset containing 154 species occurrences available in GBIF matching the query:
{
 "and" : [
 "BasisOfRecord is Human Observation",
 "Country is Mexico",
 "Geometry POLYGON((-117.80227 32.45454,-114.51001 28.09669,-112.75414 28.24718,-114.85143 32.66009,-117.80227 32.45454))",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "OccurrenceStatus is Present",
 "TaxonKey is Lampropeltis californiae",
 "Year 2010-2025"
 ]
}

 The dataset includes 154 records from 2 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013950-251009101135966/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.5v64y9
title: Occurrence Download

description: A dataset containing 705 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is one of (Cephalopoda)",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "Year is greater than or equal to 1980",
 "OccurrenceStatus is Present",
 {
 "not" : {
 "BasisOfRecord" : [
 "is one of (Fossil, Living Specimen)"
 ]
 }
 },
 "Geometry POLYGON((-140 40,-130 40,-130 50,-140 50,-140 40))"
 ]
}

 The dataset includes 705 records from 11 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013953-251009101135966/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.4jm6c3
title: Occurrence Download

description: A dataset containing 267 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Geometry POLYGON((-64.22345 -21.50558,-64.1563 -21.35756,-64.11743 -21.17643,-64.07856 -20.93239,-64.23405 -20.91588,-64.29059 -21.07425,-64.31886 -21.25879,-64.3754 -21.44639,-64.43548 -21.64689,-64.24112 -21.67973,-64.22345 -21.50558))",
 "HasGeospatialIssue is false",
 "OccurrenceStatus is Present",
 "TaxonKey is Chordata",
 "Year 2000-2025"
 ]
}

 The dataset includes 267 records from 3 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013949-251009101135966/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.34740/kaggle/dsv/13370768
title: Peer-to-Peer Boliviano (BOB) Exchange Data
DOI: 10.6084/m9.figshare.30006382
title: From ice to flow: Tracing the transformation of glacial dissolved organic matter across a typical Tibetan Plateau glacier-lake-stream continuum

description: Mountain glaciers are melting at an accelerated rate due to global warming, thereby significantly altering proglacial and downstream hydrology. However, the biogeochemical transformation of dissolved organic matter (DOM) along the glacier-lake-stream continuum remains unclear. We investigated DOM dynamics within a typical continuum on the Dagu Glacier (eastern Tibetan Plateau) by analyzing samples from supraglacial snow, surface ice, a proglacial lake, and downstream glacier-fed stream during the mid- (July) and late-melting (October) seasons of 2021, coupled with <i>in situ</i> incubation experiments at the glacier terminus. Optical spectroscopy revealed that protein-like components dominated the supraglacial snow, ice, and proglacial lake samples (≥62.8%), whereas stream samples exhibited higher proportions of humic-like components (20.6–37.2%), indicating an increasing terrestrial influence downstream. Ultrahigh-resolution mass spectrometry (FT-ICR MS) analysis further revealed a 12.8–35.8% decrease in aliphatic and peptide-like compounds, alongside a 12.7–36.2% increase in lignin, polyphenolic compounds, and polycyclic aromatic compounds along the continuum. The bio-incubation experiment confirmed that microbial degradation was the key driver of DOM transformation, demonstrating a 26.3% loss of aliphatic and peptide-like compounds over 30 days.<b> </b>These findings advance our understanding of glacial DOM biogeochemistry and its seasonal evolution.
DOI: 10.6084/m9.figshare.30006382.v1
title: From ice to flow: Tracing the transformation of glacial dissolved organic matter across a typical Tibetan Plateau glacier-lake-stream continuum

description: Mountain glaciers are melting at an accelerated rate due to global warming, thereby significantly altering proglacial and downstream hydrology. However, the biogeochemical transformation of dissolved organic matter (DOM) along the glacier-lake-stream continuum remains unclear. We investigated DOM dynamics within a typical continuum on the Dagu Glacier (eastern Tibetan Plateau) by analyzing samples from supraglacial snow, surface ice, a proglacial lake, and downstream glacier-fed stream during the mid- (July) and late-melting (October) seasons of 2021, coupled with <i>in situ</i> incubation experiments at the glacier terminus. Optical spectroscopy revealed that protein-like components dominated the supraglacial snow, ice, and proglacial lake samples (≥62.8%), whereas stream samples exhibited higher proportions of humic-like components (20.6–37.2%), indicating an increasing terrestrial influence downstream. Ultrahigh-resolution mass spectrometry (FT-ICR MS) analysis further revealed a 12.8–35.8% decrease in aliphatic and peptide-like compounds, alongside a 12.7–36.2% increase in lignin, polyphenolic compounds, and polycyclic aromatic compounds along the continuum. The bio-incubation experiment confirmed that microbial degradation was the key driver of DOM transformation, demonstrating a 26.3% loss of aliphatic and peptide-like compounds over 30 days.<b> </b>These findings advance our understanding of glacial DOM biogeochemistry and its seasonal evolution.
DOI: 10.15468/dl.czzrnn
title: Occurrence Download

description: A dataset containing 10273 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is one of (Cephalopoda)",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "Year is greater than or equal to 1980",
 "OccurrenceStatus is Present",
 {
 "not" : {
 "BasisOfRecord" : [
 "is one of (Fossil, Living Specimen)"
 ]
 }
 },
 "Geometry POLYGON((-130 40,-120 40,-120 50,-130 50,-130 40))"
 ]
}

 The dataset includes 10273 records from 37 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013954-251009101135966/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.gggyfu
title: Occurrence Download

description: A dataset containing 0 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is one of (Solenogastres)",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "Year is greater than or equal to 1980",
 "OccurrenceStatus is Present",
 {
 "not" : {
 "BasisOfRecord" : [
 "is one of (Fossil, Living Specimen)"
 ]
 }
 },
 "Geometry POLYGON((100 -50,110 -50,110 -40,100 -40,100 -50))"
 ]
}

 The dataset includes 0 records from 0 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013955-251009101135966/datasets/export for details.
DOI: 10.15468/dl.yxrcep
title: Occurrence Download

description: A dataset containing 2 species occurrences available in GBIF matching the query:
{
 "and" : [
 {
 "and" : [
 "HasGeospatialIssue is false",
 "HasCoordinate is true",
 "OccurrenceStatus is Present",
 {
 "not" : {
 "BasisOfRecord" : [
 "is one of (Fossil, Living Specimen)"
 ]
 }
 }
 ]
 },
 "TaxonKey is one of (Dodecatheon pulchellum superbum)"
 ]
}

 The dataset includes 2 records from 2 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013957-251009101135966/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.tf44kv
title: Occurrence Download

description: A dataset containing 16262 species occurrences available in GBIF matching the query:
{
 "and" : [
 "OccurrenceStatus is Present",
 "TaxonKey is Panthera leo"
 ]
}

 The dataset includes 16262 records from 177 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013956-251009101135966/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.jjp6kw
title: Occurrence Download

description: A dataset containing 0 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is one of (Solenogastres)",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "Year is greater than or equal to 1980",
 "OccurrenceStatus is Present",
 {
 "not" : {
 "BasisOfRecord" : [
 "is one of (Fossil, Living Specimen)"
 ]
 }
 },
 "Geometry POLYGON((90 -50,100 -50,100 -40,90 -40,90 -50))"
 ]
}

 The dataset includes 0 records from 0 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013960-251009101135966/datasets/export for details.
DOI: 10.15468/dl.drnkeq
title: Occurrence Download

description: A dataset containing 74 species occurrences available in GBIF matching the query:
{
 "and" : [
 "BasisOfRecord is Human Observation",
 "Country is Mexico",
 "Geometry POLYGON((-115.645 27.92396,-109.99761 22.64316,-109.08358 23.12435,-112.41326 28.15445,-115.645 27.92396))",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "OccurrenceStatus is Present",
 "TaxonKey is Lampropeltis californiae",
 "Year 2010-2025"
 ]
}

 The dataset includes 74 records from 2 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013958-251009101135966/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.5281/zenodo.17087110
title: Calculation Pluto's surface composition map with modeling temperature IR spectrum of New Horizons LEISA data

description: Data accompany the paper "Calculation Pluto’s surface composition map with modeling temperature IR spectrum of New Horizons LEISA data"

The data contains the results of materials distribution calculation, and some additional data used in the calculations



'Map fits.rar' - archive with map projections of Leisa fits data. Each Leisa measure folder contain 5 fits:



'map_IF.fits' - map of measured reflection coefficients

'map_IF_err.fits' - map of measurements error

'map_emission.fits' - map of radiation emission angles

'map_incidence.fits' - map of radiation incidence angles

'map_phase.fits' - map of phase angles




Each map in 'Map fits.rar' is presented for each Leisa band with wavelength in 'bands.fits'



'Data fits.rar' - archive with corrected Leisa data (only measurements in erg/s/cm^2/A/str) and suplying by new flat field in 'flat_field_corr.fits'


 

Further, here fits files with calculated parameters (ice distributions, particle diameters, CH4 solibility in N2, temperature) and files with Scale and Offset (Sj, Oj from paper) parameters for each of 5 Leisa fits:



'params_ls.fits' - Levenberg-Marquard calculations with least square minimization  (Sj, Oj in SO_ls.fits)

'params_x2.fits' - Levenberg-Marquard calculations with χ2 - minimization  (Sj, Oj in SO_x2.fits)

'params_ls_k1e-9.fits' - calculations with least square minimization and N2 imaginary part of refraction coefficient for λ < 2.1 μm: k = 1e-9  (Sj, Oj in SO_ls_k1e-9.fits)

'params_ls_kmin.fits' - calculations with least square minimization and N2 imaginary part of refraction coefficient for λ < 2.1 μm: k = k(λ0), λ0 = min{ λ: k(λ) > 0}  (Sj, Oj in SO_ls_kmin.fits)
DOI: 10.5281/zenodo.17087111
title: Calculation Pluto's surface composition map with modeling temperature IR spectrum of New Horizons LEISA data

description: Data accompany the paper "Calculation Pluto’s surface composition map with modeling temperature IR spectrum of New Horizons LEISA data"

The data contains the results of materials distribution calculation, and some additional data used in the calculations



'Map fits.rar' - archive with map projections of Leisa fits data. Each Leisa measure folder contain 5 fits:



'map_IF.fits' - map of measured reflection coefficients

'map_IF_err.fits' - map of measurements error

'map_emission.fits' - map of radiation emission angles

'map_incidence.fits' - map of radiation incidence angles

'map_phase.fits' - map of phase angles




Each map in 'Map fits.rar' is presented for each Leisa band with wavelength in 'bands.fits'



'Data fits.rar' - archive with corrected Leisa data (only measurements in erg/s/cm^2/A/str) and suplying by new flat field in 'flat_field_corr.fits'


 

Further, here fits files with calculated parameters (ice distributions, particle diameters, CH4 solibility in N2, temperature) and files with Scale and Offset (Sj, Oj from paper) parameters for each of 5 Leisa fits:



'params_ls.fits' - Levenberg-Marquard calculations with least square minimization  (Sj, Oj in SO_ls.fits)

'params_x2.fits' - Levenberg-Marquard calculations with χ2 - minimization  (Sj, Oj in SO_x2.fits)

'params_ls_k1e-9.fits' - calculations with least square minimization and N2 imaginary part of refraction coefficient for λ < 2.1 μm: k = 1e-9  (Sj, Oj in SO_ls_k1e-9.fits)

'params_ls_kmin.fits' - calculations with least square minimization and N2 imaginary part of refraction coefficient for λ < 2.1 μm: k = k(λ0), λ0 = min{ λ: k(λ) > 0}  (Sj, Oj in SO_ls_kmin.fits)
DOI: 10.5281/zenodo.17341803
title: Scopus-20250821-Microcredit And Economic Development

description: Database of articles on microcredit and economic development, used for a bibliometric review with the R package bibliometrix.
DOI: 10.5281/zenodo.17341804
title: Scopus-20250821-Microcredit And Economic Development

description: Database of articles on microcredit and economic development, used for a bibliometric review with the R package bibliometrix.
DOI: 10.15468/dl.tt7m5g
title: Occurrence Download

description: A dataset containing 0 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is one of (Cephalopoda)",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "Year is greater than or equal to 1980",
 "OccurrenceStatus is Present",
 {
 "not" : {
 "BasisOfRecord" : [
 "is one of (Fossil, Living Specimen)"
 ]
 }
 },
 "Geometry POLYGON((-120 40,-110 40,-110 50,-120 50,-120 40))"
 ]
}

 The dataset includes 0 records from 0 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013961-251009101135966/datasets/export for details.
DOI: 10.15468/dl.k7ybgy
title: Occurrence Download

description: A dataset containing 14 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Continent is North America",
 "Country is Mexico",
 "TaxonKey is Sequoia"
 ]
}

 The dataset includes 14 records from 8 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0013962-251009101135966/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.60723/13108
title: A case with coarse facial features, mandibular prognathia, and macrotia, in combination with neurobehavioral abnormalities and a missense variant in ABCA2

description: We report a 10-year-old male presenting with coarse facial features, mandibular prognathia, and macrotia, in combination with neurobehavioral abnormalities, including aggressive behavior, autistic traits, and hyperactivity. Exome sequencing identified a heterozygous missense variant in ABCA2 (NM_001606.4):c.2776C>T, p.(Arg926Trp). The ACMG guideline classifies this variant as VUS (2P-1B). Functional studies are at work. ABCA2 encodes a member of the ATP-binding cassette transporter family implicated in neuronal lipid metabolism and brain development. Pathogenic variants in ABCA2 have been reported in association with neurodevelopmental phenotypes; the clinical presentation of our patient expands the phenotypic spectrum potentially linked to ABCA2 dysfunction.