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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Detalles Bibliográficos
Autores principales: Han, Shuai, Guo, Xin, Wang, Xiaogang, Lin, Huijun, Yu, Yiqi, Shu, Jing, Dong, Minyue, Yang, Liwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9136293/
https://www.ncbi.nlm.nih.gov/pubmed/35646098
http://dx.doi.org/10.3389/fgene.2022.856046

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