A Novel Homozygous Missense Mutation of PIEZO1 Leading to Lymphatic Malformation-6 Identified in a Family With Three Adverse Pregnancy Outcomes due to Nonimmune Fetal Hydrops

A Novel Homozygous Missense Mutation of PIEZO1 Leading to Lymphatic Malformation-6 Identified in a Family With Three Adverse Pregnancy Outcomes due to Nonimmune Fetal Hydrops

Lymphatic malformation-6 (LMPHM6) is a rarer form of nonimmune hydrops that often manifests as widespread lymphedema involving all segments of the body, namely, subcutaneous edema, intestinal/pulmonary lymphangiectasia, chylothoraces, and pleural/pericardial effusions. Here, we detected one rare and...

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Bibliographic Details
Main Authors: Shuai Han, Xin Guo, Xiaogang Wang, Huijun Lin, Yiqi Yu, Jing Shu, Minyue Dong, Liwei Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Genetics
Subjects:
lymphatic malformation-6
PIEZO1
whole exome sequencing
nonimmune fetal hydrops
a novel mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.856046/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.856046/full

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