期刊
JOURNAL OF PEDIATRICS
卷 166, 期 2, 页码 483-486出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2014.10.015
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资金
- Research on Applying Health Technology from the Ministry of Health, Labour and Welfare [H23-013]
- Leading Project for Realization of Regenerative Medicine from the Ministry of Education, Culture, Sports, Science, and Technology, Japan
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.
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