A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation

OBJECTIVES: Our objective was to identify the genetic cause in a family with a remarkable history of neurodevelopmental disease and growth retardation. METHODS: A neurologic evaluation was performed, and DNA samples were obtained from the affected siblings and parents to perform whole-exome sequenci...

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Detalles Bibliográficos
Autores principales: Alsaleh, Norah, Alhashem, Amal, Tabarki, Brahim, Mohamed, Sarar, Alharby, Essa, Alkuraya, Fowzan S., Almontashiri, Naif A.M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9269531/
https://www.ncbi.nlm.nih.gov/pubmed/35821753
http://dx.doi.org/10.1212/NXG.0000000000200010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9269531/
https://www.ncbi.nlm.nih.gov/pubmed/35821753
http://dx.doi.org/10.1212/NXG.0000000000200010

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