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

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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Bibliographic Details
Main Authors: Kaihui Zhang, Shu Liu, Wenjun Gu, Yuqiang Lv, Haihua Yu, Min Gao, Dong Wang, Jianyuan Zhao, Xiaoying Li, Zhongtao Gai, Shimin Zhao, Yi Liu, Yiyuan Yuan
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Genetics
Subjects:
Prader–Willi syndrome
Prader–Willi-like syndrome
imprinting center
microdeletion
familial transmission
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.630650/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.630650/full

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