Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation
Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation
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DOI：
10.1016/j.jpeds.2014.10.015
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发表时间：
2015-02-01
影响因子：
5.1
通讯作者：
Kosaki, Kenjiro
中科院分区：
文献类型：
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作者：
Takenouchi, Toshiki;Yamaguchi, Yu;Kosaki, Kenjiro
通过外显子组分析，我们发现了一种由 PDGFRB 突变引起的新型过度生长综合征，PDGFRB 在生长和分化中发挥着关键作用。该实体的特征是躯体过度生长、独特的面部特征、皮肤超弹性和脆弱、白质病变和神经系统恶化。
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.