De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children

De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children

Abstract Background Heterotaxy syndrome (HTX) is caused by aberrant left–right patterning early in embryonic development, which results in abnormal positioning and morphology of the thoracic and abdominal organs. Currently, genetic testing discerns the underlying genetic cause in less than 20% of sp...

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Bibliographic Details
Main Authors: Xi-ji Qin, Meng-meng Xu, Jia-jun Ye, Yi-wei Niu, Yu-rong Wu, Rang Xu, Fen Li, Qi-hua Fu, Sun Chen, Kun Sun, Yue-juan Xu
Format: Article
Language:English
Published: BMC 2022-09-01
Series:Human Genomics
Subjects:
Congenital heart disease
Heterotaxy syndrome
MMP21
Exome sequencing
Zebrafish
Online Access:https://doi.org/10.1186/s40246-022-00409-9

Internet

https://doi.org/10.1186/s40246-022-00409-9

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