| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6221789 | The Journal of Pediatrics | 2015 | 4 Pages |
Abstract
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.
Keywords
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Authors
Toshiki MD, Yu MD, Akiko MD, PhD, Rika MD, PhD, Hideyuki MD, PhD, Kenjiro MD, PhD,