PIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1: A case report

BACKGROUND: Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) associated with mutations in PIGN gene. CASE SUMMARY: The authors report 1 case of a 16 years old girl who was presented with epilepsy, developmental delay and cerebellar atrophy. She harbors a compound heterozygous var...

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Detalles Bibliográficos
Autores principales: Hou, Fei, Shan, Shan, Jin, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9210875/
https://www.ncbi.nlm.nih.gov/pubmed/35812661
http://dx.doi.org/10.12998/wjcc.v10.i16.5441

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9210875/
https://www.ncbi.nlm.nih.gov/pubmed/35812661
http://dx.doi.org/10.12998/wjcc.v10.i16.5441

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