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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...
Autores principales: | Sun, Yixi, Qian, Yangwen, Sun, Hai-Xi, Chen, Min, Luo, Yuqin, Xu, Xiaojing, Yan, Kai, Wang, Liya, Hu, Junjie, Dong, Minyue |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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 |
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