Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report

Abstract Background Bosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system developmental disorder characterized by severe hypoplasia of the nose and eyes, and reproductive system defects. BAMS is extremely rare in th...

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Bibliographic Details

Published in:	BMC Medical Genomics
Main Authors:	Jun-Lin Yang, Heng Gu, Zhuang-Zhuang Yuan, Xiao-Hui Xie, Yi-Feng Yang, Zhi-Ping Tan
Format:	Article
Language:	English
Published:	BMC 2024-05-01
Subjects:	Bosma arhinia microphthalmia syndrome SMCHD1 Whole-exome sequencing Arhinia
Online Access:	https://doi.org/10.1186/s12920-024-01907-6