Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Hongbo Chen
raw_affiliation_strings: Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China
raw_author_name: Dan Yu
raw_affiliation_strings: Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China
raw_author_name: Shanling Liu
raw_affiliation_strings: Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China
raw_author_name: Hanbing Xie
raw_affiliation_strings: Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China
raw_author_name: Lina Qiao
raw_affiliation_strings: Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China
raw_author_name: Hanmin Liu
raw_affiliation_strings: Department of Pediatric Pulmonology and Immunology, WCSUH-Tianfu Sichuan Provincial Children's Hospital, Sichuan University, Meishan, China
Department of Pediatric Pulmonology and Immunology, West China Second University Hospital, Sichuan University, Chengdu, China
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China
NHC Key Laboratory of Chronobiology (Sichuan University), Chengdu, China
Sichuan Birth Defects Clinical Research Center, West China Second University Hospital, Sichuan University, Chengdu, China
The Joint Laboratory for Lung Development and Related Diseases of West China Second University Hospital, Sichuan University and School of Life Sciences of Fudan University, West China Institute of Women and Children's Health, West China Second University Hospital, Sichuan University, Chengdu, China
raw_author_name: Weiran Li
raw_affiliation_strings: Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China