A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts

Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopmental features, microcephaly, cataracts, and renal abnormalities (known as NEDMCR). To date, only two homoallelic variations have been linked to the disease. Moreover, clinical features associated with th...

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Detalles Bibliográficos
Autores principales: Aldhalaan, Hesham, AlBakheet, Albandary, AlRuways, Sarah, AlMutairi, Nouf, AlNakiyah, Maha, AlGhofaili, Reema, Cardona-Londoño, Kelly J., Alahmadi, Khalid Omar, AlQudairy, Hanan, AlRasheed, Maha M., Colak, Dilek, Arold, Stefan T., Kaya, Namik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774908/
https://www.ncbi.nlm.nih.gov/pubmed/35052432
http://dx.doi.org/10.3390/genes13010092

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774908/
https://www.ncbi.nlm.nih.gov/pubmed/35052432
http://dx.doi.org/10.3390/genes13010092

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