Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver–Russell Syndrome

Silver–Russell syndrome (SRS) is a rare, well-recognized disorder characterized by growth restriction, including intrauterine and postnatal growth. Most SRS cases are caused by hypomethylation of the paternal imprinting center 1 (IC1) in chromosome 11p15.5 and maternal uniparental disomy in chromoso...

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Bibliografiske detaljer

Principais autores:	Chun-Ling Xia, Yuan Lyu, Chuang Li, Huan Li, Zhi-Tao Zhang, Shao-Wei Yin, Yan Mao, Wen Li, Ling-Yin Kong, Bo Liang, Hong-Kun Jiang, Jesse Li-Ling, Cai-Xia Liu, Jun Wei
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2019-11-01
Serier:	Frontiers in Genetics
Fag:	IGF2 de novo splicing variant Silver–Russell syndrome whole-exome-sequencing
Online adgang:	https://www.frontiersin.org/article/10.3389/fgene.2019.01161/full
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