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Article

Expansion of the phenotype of Kosaki overgrowth syndrome.

American journal of medical genetics. Part A - 1 Sept 2017

Minatogawa Mari, Takenouchi Toshiki, Tsuyusaki Yu, Iwasaki Fuminori, Uehara Tomoko, Kurosawa Kenji, Kosaki Kenjiro, Curry Cynthia J

Abstract excerpt

Skeletal overgrowth is a characteristic of several genetic disorders that are linked to specific molecular signaling cascades. Recently, we established a novel overgrowth syndrome (Kosaki overgrowth syndrome, OMIM #616592) arising from a de novo mutation in PDGFRB, that is, c.1751C>G p.(Pro584Arg). Subsequently, other investigators provided in vitro molecular evidence that this specific mutation in the...

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Identifiers

PMID: 28639748
DOI: 10.1002/ajmg.a.38310

Genes

PDGFRB

Variants

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