Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1

Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1

Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) caused by phosphatidylinositol-glycan biosynthesis class N (PIGN) mutations is an autosomal recessive disease involving many systems of the body, such as the urogenital, cardiovascular, gastrointestinal, and central nervous systems...

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Bibliographic Details
Main Authors: Shi-qi Xiao, Mei-hui Li, Yi-lin Meng, Chuang Li, Hai-long Huang, Cai-xia Liu, Yuan Lyu, Quan Na
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-10-01
Series:Frontiers in Genetics
Subjects:
PIGN
multiple congenital anomalies-hypotonia-seizures syndrome 1
reproduction guidance
prenatal diagnosis
glycosylphosphatidylinositol-anchor biosynthesis pathway
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.594078/full

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https://www.frontiersin.org/articles/10.3389/fgene.2020.594078/full

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