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Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia

BACKGROUND: Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. However, descriptions of the expressivity of MCDS are rare. METHODS: Two probands...

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Detalles Bibliográficos
Autores principales:	Kong, Lingchi, Shi, Li, Wang, Wenbo, Zuo, Rongtai, Wang, Mengwei, Kang, Qinglin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923838/ https://www.ncbi.nlm.nih.gov/pubmed/31856751 http://dx.doi.org/10.1186/s12881-019-0937-1

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