Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation

Toshiki Takenouchi; Yu Yamaguchi; Akiko Tanikawa; Rika Kosaki; Hideyuki Okano; Kenjiro Kosaki

doi:10.1016/j.jpeds.2014.10.015

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation

Toshiki Takenouchi
, Yu Yamaguchi
, Akiko Tanikawa
, Rika Kosaki
, Hideyuki Okano
, Kenjiro Kosaki

Research output: Contribution to journal › Article › peer-review

96 Citations (Scopus)

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.

Original language	English
Pages (from-to)	483-486
Number of pages	4
Journal	Journal of Pediatrics
Volume	166
Issue number	2
DOIs	https://doi.org/10.1016/j.jpeds.2014.10.015
Publication status	Published - Feb 1 2015
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2014.10.015

Cite this

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title = "Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation",

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.",

author = "Toshiki Takenouchi and Yu Yamaguchi and Akiko Tanikawa and Rika Kosaki and Hideyuki Okano and Kenjiro Kosaki",

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AU - Takenouchi, Toshiki

AU - Yamaguchi, Yu

AU - Tanikawa, Akiko

AU - Kosaki, Rika

AU - Okano, Hideyuki

AU - Kosaki, Kenjiro

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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UR - https://www.scopus.com/pages/publications/84921500852#tab=citedBy

U2 - 10.1016/j.jpeds.2014.10.015

DO - 10.1016/j.jpeds.2014.10.015

M3 - Article

C2 - 25454926

AN - SCOPUS:84921500852

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SP - 483

EP - 486

JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 2

ER -

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation

Abstract

ASJC Scopus subject areas

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