Large Phenotypic Variation of Individuals from a Family with a Novel
ASPM mutation
behavioral and cognitive deficits
epilepsy
primary hereditary microcephaly
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
25 02 2022
25 02 2022
Historique:
received:
22
12
2021
revised:
01
02
2022
accepted:
22
02
2022
entrez:
25
3
2022
pubmed:
26
3
2022
medline:
28
4
2022
Statut:
epublish
Résumé
Here, we report a consanguineous family harboring a novel homozygous frame-shift mutation in
Identifiants
pubmed: 35327983
pii: genes13030429
doi: 10.3390/genes13030429
pmc: PMC8956106
pii:
doi:
Substances chimiques
ASPM protein, human
0
Nerve Tissue Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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