SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature

Compound heterozygous mutations in SHQ1 have been associated with a rare and severe neurological disorder characterized by global developmental delay (GDD), cerebellar degeneration coupled with seizures, and early-onset dystonia. Currently, only five affected individuals have been documented in the...

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Detalles Bibliográficos
Autores principales: AlHargan, Aljouhra, AlMuhaizea, Mohammed A., Almass, Rawan, Alwadei, Ali H., Daghestani, Maha, Arold, Stefan T., Kaya, Namik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944922/
https://www.ncbi.nlm.nih.gov/pubmed/36810590
http://dx.doi.org/10.1038/s41439-023-00234-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944922/
https://www.ncbi.nlm.nih.gov/pubmed/36810590
http://dx.doi.org/10.1038/s41439-023-00234-z

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