MCPH1: A Novel Case Report and a Review of the Literature.
MCPH1
MRI
SNP array
microcephaly
simplified gyral pattern
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
02 04 2022
02 04 2022
Historique:
received:
25
02
2022
revised:
19
03
2022
accepted:
31
03
2022
entrez:
23
4
2022
pubmed:
24
4
2022
medline:
27
4
2022
Statut:
epublish
Résumé
Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reduction in brain size due to impaired neurogenesis, often associated with a variable degree of intellectual disability (ID). The genetic etiology of MCPH is heterogeneous and comprises more than 20 loci, nearly all following a recessive inheritance pattern. The first causative gene identified,
Identifiants
pubmed: 35456440
pii: genes13040634
doi: 10.3390/genes13040634
pmc: PMC9032034
pii:
doi:
Substances chimiques
Cell Cycle Proteins
0
Cytoskeletal Proteins
0
MCPH1 protein, human
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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