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?
What is the Koolen de Vries syndrome?
[Gabriele-de Vries Syndrome: Genes and Databases]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK541730/table/gabriele-devries.molgen.TA/. Making ...
A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene. Tan L, Li Y, Liu F, Huang Y, Luo S, ...
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. · A 9-month-old Chinese patient with Gabriele-de Vries syndrome due ...
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 ...
13.03.2023 · Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha ...
While the prior phenotypic and genetic analyses demonstrated a biological link between the cranial sutures and the hypothalamic-pituitary axis, pathway analyses ...