Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

Atelosteogenesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another chondrodysplasia, the much less severe diastrophic dysplasia (DTD). The similarity suggests a shared pathogenesis involving lesions in the same biochemic...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Hästbacka, J., Superti-Furga, A., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Lander, E. S.
Format: Artigo
Langue:Inglês
Publié: 1996
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914552/
https://ncbi.nlm.nih.gov/pubmed/8571951
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires