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...

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Detalles Bibliográficos
Autores principales: Al Masseri, Zainab, AlSayed, Moeenaldeen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248221/
https://www.ncbi.nlm.nih.gov/pubmed/35782616
http://dx.doi.org/10.1016/j.ymgmr.2022.100864

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248221/
https://www.ncbi.nlm.nih.gov/pubmed/35782616
http://dx.doi.org/10.1016/j.ymgmr.2022.100864

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