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Grange syndrome due to homozygous YY1AP1 missense rare variants

21 Oct 2019

Abstract excerpt

Grange syndrome (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disease and variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Grange syndrome is caused by homozygous or compound heterozygous loss-of-function variants in the YYA1P1 gene. We report on the case of a 53-year old female with novel homozygous missense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31633303
DOI: 10.1002/ajmg.a.61379

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