Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes

Uniparental disomy (UPD) refers to as both homologous chromosomes inherited from only one parent without identical copies from the other parent. Studies on clinical phenotypes in UPDs are usually focused on the documented UPD 6, 7, 11, 14, 15, and 20, which directly lead to imprinting disorders. Thi...

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Detalles Bibliográficos
Autores principales: Chen, Qi, Chen, Yunpeng, Shi, Lin, Tao, Ying, Li, Xiaoguang, Zhu, Xiaolan, Yang, Yan, Xu, Wenlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10582337/
https://www.ncbi.nlm.nih.gov/pubmed/37860673
http://dx.doi.org/10.3389/fgene.2023.1232059

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10582337/
https://www.ncbi.nlm.nih.gov/pubmed/37860673
http://dx.doi.org/10.3389/fgene.2023.1232059

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