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Article

The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1

1 Jan 2023

Abstract excerpt

Introduction: Grange syndrome (OMIM 602531) is characterized by a constellation of symptoms of hypertension, stenosis, or occlusion of different arteries (including the cerebral, renal, abdominal, and coronary vessels) with a variable occurrence of brachysyndactyly, bone fragility, and congenital heart defects. Learning disabilities were also reported in some cases. Biallelic pathogenic variants in YY1AP1 are...

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PMID: 37323195
DOI: 10.1159/000527785

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The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1PMID 37323195Read ↗

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