Transmission of a Novel Imprinting Center Deletion Associated With Prader–Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About

Prader–Willi syndrome (PWS) is a complex genetic syndrome caused by the loss of function of genes in 15q11-q13 that are subject to regulation by genomic imprinting and expressed from the paternal allele only. The main clinical features of PWS patients are hypotonia during the neonatal and infantile...

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Detalles Bibliográficos
Autores principales: Zhang, Kaihui, Liu, Shu, Gu, Wenjun, Lv, Yuqiang, Yu, Haihua, Gao, Min, Wang, Dong, Zhao, Jianyuan, Li, Xiaoying, Gai, Zhongtao, Zhao, Shimin, Liu, Yi, Yuan, Yiyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421676/
https://www.ncbi.nlm.nih.gov/pubmed/34504512
http://dx.doi.org/10.3389/fgene.2021.630650

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