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

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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Bibliografske podrobnosti
Main Authors: 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: Article
Jezik:English
Izdano: Frontiers Media S.A. 2019-11-01
Serija:Frontiers in Genetics
Teme:
IGF2
de novo
splicing variant
Silver–Russell syndrome
whole-exome-sequencing
Online dostop:https://www.frontiersin.org/article/10.3389/fgene.2019.01161/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.01161/full

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