Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele

Skewed XCI plays an important role in the phenotypic heterogeneities of many X-linked disorders, even involving in diseases caused by XCI-escaping genes. DDX3X-related intellectual disability is more common in females and less common in males, who usually inherit from unaffected heterozygous mothers...

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Detalles Bibliográficos
Autores principales: Sun, Yixi, Qian, Yangwen, Sun, Hai-Xi, Chen, Min, Luo, Yuqin, Xu, Xiaojing, Yan, Kai, Wang, Liya, Hu, Junjie, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589230/
https://www.ncbi.nlm.nih.gov/pubmed/36299587
http://dx.doi.org/10.3389/fgene.2022.999442

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589230/
https://www.ncbi.nlm.nih.gov/pubmed/36299587
http://dx.doi.org/10.3389/fgene.2022.999442

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