Associated Papers
The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1.
Karakaya T et al.
Molecular Syndromology, 2023
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.
Raggio V et al.
Human Genomics, 2021
Grange syndrome due to homozygous YY1AP1 missense rare variants.
Ciuffetelli Alamo IV et al.
American Journal of Medical Genetics. Part A, 2019
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.
Saida K et al.
Journal of Human Genetics, 2019
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.
Guo DC et al.
American Journal of Human Genetics, 2017
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