A Novel Mutation in
Epilepsy
Epileptic syndromes
GPI-linked proteins
PIGA
Phosphatidylinositol glycan class A protein
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Feb 2020
Feb 2020
Historique:
accepted:
03
12
2019
entrez:
8
4
2020
pubmed:
8
4
2020
medline:
8
4
2020
Statut:
ppublish
Résumé
Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) is a rare disease caused by mutations in the X chromosomal
Identifiants
pubmed: 32256299
doi: 10.1159/000505797
pii: msy-0011-0030
pmc: PMC7109435
doi:
Types de publication
Journal Article
Langues
eng
Pagination
30-37Informations de copyright
Copyright © 2020 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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