A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1

Schmid-type metaphyseal chondrodysplasia (MIM 156500) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL10A1 gene (MIM 120110) encoding the α1(X) chains of type X collagen. We report an 8-year-old girl with waddling gait, short stature, mild dorsal scoli...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Cammarata-Scalisi, Francisco, Matysiak, Uta, Velten, Tanja, Callea, Michele, Araque, Dianora, Willoughby, Colin E., Galeotti, Angela, Avendaño, Andrea
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2019
Assuntos:
Novel Insights from Clinical Practice
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6528095/
https://ncbi.nlm.nih.gov/pubmed/31191206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000496553
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