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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Detalles Bibliográficos
Autores principales: Xiao, Shi-qi, Li, Mei-hui, Meng, Yi-lin, Li, Chuang, Huang, Hai-long, Liu, Cai-xia, Lyu, Yuan, Na, Quan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7652820/
https://www.ncbi.nlm.nih.gov/pubmed/33193741
http://dx.doi.org/10.3389/fgene.2020.594078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7652820/
https://www.ncbi.nlm.nih.gov/pubmed/33193741
http://dx.doi.org/10.3389/fgene.2020.594078

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