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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

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