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

研究成果 › 査読

96 被引用数 (Scopus)

抄録

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.

本文言語	English
ページ（範囲）	483-486
ページ数	4
ジャーナル	Journal of Pediatrics
巻	166
号	2
DOI	https://doi.org/10.1016/j.jpeds.2014.10.015
出版ステータス	Published - 2月 1 2015
外部発表	はい

ASJC Scopus subject areas

小児科学、周産期医学および子どもの健康

文献へのアクセス

10.1016/j.jpeds.2014.10.015

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引用スタイル

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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.",

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AU - Yamaguchi, Yu

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AU - Okano, Hideyuki

AU - Kosaki, Kenjiro

PY - 2015/2/1

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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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Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation

抄録

ASJC Scopus subject areas

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