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Article

Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).

American journal of medical genetics. Part A - 1 May 2021

Chenbhanich Jirat, Hu Yan, Hetts Steven, Cooke Daniel, Dowd Christopher, Devine Patrick, Russell Bianca, Kang Sung Hae L, Chang Vivian Y, Abla Adib A, Cornett Patricia, Yeh Iwei, Lee Hane, Martinez-Agosto Julian A, Frieden Ilona J, Shieh Joseph T

Abstract excerpt

Activating variants in the platelet-derived growth factor receptor β gene (PDGFRB) have been associated with Kosaki overgrowth syndrome, infantile myofibromatosis, and Penttinen premature aging syndrome. A recently described phenotype with fusiform aneurysm has been associated with mosaic PDGFRB c.1685A > G p.(Tyr562Cys) variant. Few reports however have examined the vascular phenotypes and mosaic effects of...

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Aging, Premature
Aneurysm
Germ-Line Mutation
Growth Disorders
Intracranial Aneurysm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptor, Platelet-Derived Growth Factor beta

Skin Abnormalities

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PMID: 33683022
DOI: 10.1002/ajmg.a.62126

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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