Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

Background: Lethal multiple pterygium syndrome (LMPS) is a rare autosomal recessive inherited disorder typically characterized by intrauterine growth retardation, multiple pterygia, and flexion contractures.Case presentation: We herein report a Chinese case with a history of three adverse pregnancie...

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Bibliographic Details
Main Authors: Jianlong Zhuang, Junyu Wang, Qi Luo, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Xinying Chen, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
whole-exome sequencing
chromosomal microarray analysis
CHRNA1
lethal multiple pterygium syndrome
stillbirth
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.964098/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.964098/full

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