Associated Papers
The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1.
Karakaya T et al.
Molecular Syndromology, 2023
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy.
Gerik-Celebi HB 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
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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