A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

BACKGROUND: Intellectual disability (ID) is a common condition with a population prevalence frequency of 1–3% and an enrichment for males, driven in part by the contribution of mutant alleles on the X-chromosome. Among the more than 500 genes associated with ID, DDX3X represents an outlier in sex sp...

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Detalles Bibliográficos
Autores principales: Kellaris, Georgios, Khan, Kamal, Baig, Shahid M., Tsai, I-Chun, Zamora, Francisca Millan, Ruggieri, Paul, Natowicz, Marvin R., Katsanis, Nicholas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5831694/
https://www.ncbi.nlm.nih.gov/pubmed/29490693
http://dx.doi.org/10.1186/s40246-018-0141-y

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