Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.

The Journal of pediatrics ·第 166 卷 ·第 2 期 ·2015-04-13

Takenouchi Toshiki, Yamaguchi Yu, Tanikawa Akiko, Kosaki Rika, Okano Hideyuki, Kosaki Kenjiro

摘要

Using exome analysis, we identified a novel overgrowth syndrome arising from a mutation in PDGFRB, which plays a critical role in growth and differentiation. This entity is characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, white matter lesions, and neurologic deterioration.

文献信息

期刊

The Journal of pediatrics

期刊简称

J Pediatr

ISSN

0022-3476

DOI

10.1016/j.jpeds.2014.10.015

发表日期

2015-04-13

收录日期

2015-01-27

更新日期

2015-01-27

语言

英语

国家/地区

United States

NLM ID

0375410

外部链接

PubMed 原文 DOI: 10.1016/j.jpeds.2014.10.015 查看期刊详情

分析服务

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.

联系地址

微信公众号