30.05.2019 · Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected ...
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What is Gabriele de Vries syndrome?
Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals and a wide spectrum of functional and morphologic abnormalities. Intrauterine growth restriction or low birth weight and feeding difficulties are common.
What is the Koolen de Vries syndrome?
Koolen-de Vries syndrome (KdVS) is characterized by congenital malformations, developmental delay / intellectual disability, neonatal/childhood hypotonia, epilepsy, dysmorphisms, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age.
Review Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review. Yang J, Yu C, Lyn N, Liu L, Li D, Shang Q. Mol Genet Genomic Med.
Review Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review. · A 9-month-old Chinese patient with Gabriele-de Vries syndrome due ...
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small ...
Review Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review. Yang J, Yu C, Lyn N, Liu L, Li D, Shang Q. Mol Genet Genomic Med.
Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 (YY1) gene.
30.05.2019 · PDF | Clinical characteristics Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability ...
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literature searches of Pubmed, BioRxiv, and the GWAS catalog. ... et al., 1993), Gabriele-de Vries syndrome (Nabais ... http://www.ncbi.nlm.nih.gov/books/NBK541730/.
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