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,Molecular Genetics & Genomic Medicine

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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
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-08-23 , DOI: 10.1002/mgg3.1758
Yanchou Ye ₁ , Weihao Li ₂ , Guan Wang ₃ , Longsheng Zhan ₃ , Junwei Lin ₃ , Tian Li ₁ , Jun Zhang ₃

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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 phenotypes with autosomal dominant inheritance mode.

更新日期：2021-08-23

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