Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method

BACKGROUND: The collagen alpha‐1(X) chain gene (COL10A1) is a known causative gene for Schmid metaphyseal chondrodysplasia (SMCD). This study clinically examined a Chinese family (n = 42) for SMCD and inheritance pattern. Fifteen individuals were diagnosed with SMCD based on characteristic skeletal...

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Detalles Bibliográficos
Autores principales: Ye, Yanchou, Li, Weihao, Wang, Guan, Zhan, Longsheng, Lin, Junwei, Li, Tian, Zhang, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580095/
https://www.ncbi.nlm.nih.gov/pubmed/34423584
http://dx.doi.org/10.1002/mgg3.1758

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580095/
https://www.ncbi.nlm.nih.gov/pubmed/34423584
http://dx.doi.org/10.1002/mgg3.1758

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