Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

作者：Takenouchi Toshiki; Yamaguchi Yu; Tanikawa Akiko; Kosaki Rika; Okano Hideyuki; Kosaki Kenjiro^*

来源：Journal of Pediatrics, 2015, 166(2): 483-486.

DOI：10.1016/j.jpeds.2014.10.015

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.

• 出版日期2015-2