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

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

Abstract 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 s...

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Bibliographic Details
Main Authors: Yanchou Ye, Weihao Li, Guan Wang, Longsheng Zhan, Junwei Lin, Tian Li, Jun Zhang
Format: article
Language:EN
Published: Wiley 2021
Subjects:
COL10A1
noninvasive prenatal testing
pathogenic variant
Sanger sequencing
Schmid metaphyseal chondrodysplasia (SMCD)
trio‐whole exome sequencing
Genetics
QH426-470
Online Access:https://doaj.org/article/f3382b9a793d4a758843d73a1c83f42b
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