Gabriele-de Vries syndrome (GADEVS) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, ...
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#617557. Table of Contents. MIM Entry. ▻. External Links. ▽. Clinical Resources. Clinical Trials · EuroGentest · Gene Reviews · GTR · GARD · OrphaNet · POSSUM.
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The YY1 gene creates an entry for the transcriptional repressor protein YY1 (TYY1). ... OMIM #617557 [11]. Current experience and ... https://doi.org/10.3390/ ...
Gabriele-de Vries syndrome, 617557. ZBTB20, Transcriptional repressor, Primrose syndrome, 259050. ZNF41, Transcription factor, Mental retardation, 314995*.
13.03.2023 · Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 (YY1) gene.
Table 1 lists all known syndromes featuring CS in their phenotype; the reported data include reference to the OMIM ... GABRIELE-DE VRIES SYNDROME, 617557, -, YY1.
Gabriele-de Vries syndrome. 617557. ZBTB20 ... Q., Qin, D., 2011. Isogenic pairs of wild type and mutant induced ... https://doi.org/10.1371/journal.pone.0003034.
Biesecker-Young-Simpson syndrome (OMIM #603736) and Gabriele-De Vries syndrome. (OMIM #617557). ... https://uroweb.org/guidelines/paediatric-urology (accessed.
26.04.2021 · We assessed the impact of KMT2D mutations on chromatin and transcriptional regulation in a cohort of multiple KS1 tissues, including primary ...