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Article

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.

American journal of human genetics - 5 Jan 2017

Guo Dong-Chuan, Duan Xue-Yan, Regalado Ellen S, Mellor-Crummey Lauren, Kwartler Callie S, Kim Dong, Lieberman Kenneth, de Vries Bert B A, Pfundt Rolph, Schinzel Albert, Kotzot Dieter, Shen Xuetong, Yang Min-Lee, Bamshad Michael J, Nickerson Deborah A, Gornik Heather L, Ganesh Santhi K, Braverman Alan C, Grange Dorothy K, Milewicz Dianna M

Abstract excerpt

Fibromuscular dysplasia (FMD) is a heterogeneous group of non-atherosclerotic and non-inflammatory arterial diseases that primarily involves the renal and cerebrovascular arteries. Grange syndrome is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to FMD and variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities....

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Identifiers

PMID: 27939641
DOI: 10.1016/j.ajhg.2016.11.008
PMCID: PMC5223026

Genes

INO80

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Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.PMID 27939641Read ↗

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