Open AccessPIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1: A case report
Author(s) -
Fei Hou,
Shan Shan,
Hua Jiang
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i16.5441
Subject(s) - hypotonia , medicine , mutation , genetics , epilepsy , nonsense mutation , nonsense , compound heterozygosity , splice site mutation , prenatal diagnosis , pediatrics , gene , fetus , missense mutation , exon , biology , pregnancy , psychiatry , alternative splicing
Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) associated with mutations in PIGN gene.