Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report

Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the...

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Detalles Bibliográficos
Autores principales: Díaz-Ordoñez, Lorena, Ramirez-Montaño, Diana, Candelo, Estephania, Cruz, Santiago, Pachajoa, Harry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iranian Journal of Medical Sciences 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525729/
https://www.ncbi.nlm.nih.gov/pubmed/31182893

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525729/
https://www.ncbi.nlm.nih.gov/pubmed/31182893

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