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A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report

BACKGROUND: Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one of the prominent features of collagenopathies. Molecular defects of the COL2A1 gene cause type II collagenopathies that is mainly an autosomal dominant disease, whereas some rare cases with autosomal recess...

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Detalles Bibliográficos
Autores principales:	Zhang, Qianwen, Yao, Ruen, Li, Qun, Li, Xin, Feng, Biyun, Chang, Guoying, Wang, Jian, Wang, Xiumin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8359039/ https://www.ncbi.nlm.nih.gov/pubmed/34380476 http://dx.doi.org/10.1186/s12920-021-01048-0

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