Associated Papers
Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review.
Yang J et al.
Molecular Genetics & Genomic Medicine, 2024
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
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