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Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, the role of skewed XCI in XCI-escaping gene SHOX regulation is unclear. Here, we focused on a heterozygous deletion of SHOX gene enhancer with clinical heterogeneity. Using...

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Detalles Bibliográficos
Autores principales:	Sun, Yixi, Luo, Yuqin, Qian, Yeqing, Chen, Min, Wang, Liya, Li, Hongge, Zou, Yu, Dong, Minyue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852097/ https://www.ncbi.nlm.nih.gov/pubmed/31781162 http://dx.doi.org/10.3389/fgene.2019.01086

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