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...

Descripción completa

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

Internet

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

Ejemplares similares