Associated Papers
Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review.
Yang J et al.
Molecular Genetics & Genomic Medicine, 2024
Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.
Liu JL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
36549658 (PubMed )
Supplement: gfac338_supplemental_file.pdf
A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.
Dos Santos SR et al.
Metabolic Brain Disease, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.
Khamirani HJ et al.
Annals of Human Genetics, 2022
A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.
Tan L et al.
Molecular Genetics & Genomic Medicine, 2021
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