Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants

Background: GNAO1 encodes an alpha subunit of the heterotrimeric guanine nucleotide-binding proteins (G proteins). Mutations in GNAO1 result in two clinical phenotypes: Early infantile epileptic encephalopathy 17 (EEIE17-OMIM #615473) and Neurodevelopmental disorder with involuntary movements (NEDIM...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Zainab Al Masseri, Moeenaldeen AlSayed
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2022-06-01
Saila:Molecular Genetics and Metabolism Reports
Gaiak:
Gonadal
Mosaicism
Neurodevelopmental
Involuntary
Movements
Dystonia
Sarrera elektronikoa:http://www.sciencedirect.com/science/article/pii/S2214426922000246
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