TY - JOUR
T1 - Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation
AU - Takenouchi, Toshiki
AU - Yamaguchi, Yu
AU - Tanikawa, Akiko
AU - Kosaki, Rika
AU - Okano, Hideyuki
AU - Kosaki, Kenjiro
N1 - Funding Information:
Supported by Research on Applying Health Technology ( H23-013 ) from the Ministry of Health, Labour and Welfare, and the Leading Project for Realization of Regenerative Medicine , Support for the Core Institutes for iPS cell research from the Ministry of Education, Culture, Sports, Science, and Technology , Japan. H.O. is a scientific consultant to San Bio, Co Ltd., and Daiichi Sankyo Co, Ltd. The other authors declare no conflicts of interest.
Publisher Copyright:
© 2015 Elsevier Inc.
PY - 2015/2/1
Y1 - 2015/2/1
N2 - 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.
AB - 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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U2 - 10.1016/j.jpeds.2014.10.015
DO - 10.1016/j.jpeds.2014.10.015
M3 - Article
C2 - 25454926
AN - SCOPUS:84921500852
SN - 0022-3476
VL - 166
SP - 483
EP - 486
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 2
ER -