@entity5607 ( @entity5607 ; previously known as @entity5607 ) is an @entity74 that is characterized by the formation of @entity5 ( @entity705 ) at multiple sites in the skeleton, secondary bursa formation and impingement of nerves, tendons and vessels, bone curving, and @entity851 . @entity5607 is also known to be associated with @entity625 , @entity158 , @entity2318 and occasional @entity5 into secondary peripheral @entity511 . @entity5607 @entity1 present additional complains but the relevance of those in relation to the syndromal background needs validation. Mutations in two enzymes that are required during heparan @entity597 synthesis (EXT1 or @entity43668 ) are known to cause @entity5607 . Previously, we have used @entity3392 which harbour mutations in @entity43668 as a model for @entity5607 and shown that @entity43668   /    fish have skeletal defects that resemble those seen in @entity705 . Here we analyse dental defects present in @entity43668   /    fish. Histological analysis reveals that @entity43668   /    fish have very severe defects associated with the formation and the morphology of teeth. At 5 days post fertilization 100% of @entity43668   /    fish have a single tooth at the end of the 5(th) pharyngeal arch, whereas wild-type fish develop three teeth, located in the middle of the pharyngeal arch. @entity43668   /    teeth have abnormal morphology (they were shorter and thicker than in the @entity7097 ) and patchy ossification at the tooth base. Deformities such as split crowns and enamel lesions were found in 20% of @entity43668   /    adults. The tooth morphology in @entity43668   /    was partially rescued by @entity28628 administered locally (bead implants). Our findings from @entity3392 model were validated in a dental survey that was conducted with assistance of the MHE Research Foundation. The presence of the malformed and/or displaced teeth with abnormal enamel was declared by half of the respondents indicating that @entity5607 might indeed be also associated with dental problems.

HSPG-deficient XXXX uncovers dental aspect of @entity5607 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity851 :: ('MESH:D006130', 'Disease') :: ['short stature'] @entity511 :: ('MESH:D002813', 'Disease') :: ['chondrosarcoma'] @entity625 :: ('MESH:D001168', 'Disease') :: ['arthritis'] @entity43668 :: ('493780(Tax:7955)', 'Gene') :: ['EXT2', 'ext2'] @entity5 :: ('MESH:D009369', 'Disease') :: ['malignant transformation of osteochondroma', 'cartilaginous bone tumours'] @entity705 :: ('MESH:D015831', 'Disease') :: ['osteochondromas'] @entity2318 :: ('MESH:D002921', 'Disease') :: ['scarring'] @entity7097 :: ('MESH:C536751', 'Disease') :: ['WT'] @entity28628 :: ('30538(Tax:7955)', 'Gene') :: ['FGF8'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal dominant genetic condition'] @entity158 :: ('MESH:D010146', 'Disease') :: ['general pain'] @entity5607 :: ('MESH:D005097', 'Disease') :: ['multiple hereditary exostosis', 'Multiple Osteochondromas', 'MO'] @entity3392 :: ('7955', 'Species') :: ['zebrafish'] @entity597 :: ('CHEBI:16189', 'Chemical') :: ['sulphate']
@entity3392 :: (7955,Species) :: ['zebrafish']
