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.
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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 Jansen de Vries syndrome?
Jansen de Vries syndrome (JDVS, OMIM: 617450) is a rare neurodevelopmental disorder associated with hypotonia, behavioral features, high threshold to pain, short stature, ophthalmological abnormalities, dysmorphism and occasionally a structural cardiac condition.
Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 (YY1) gene.
Es fehlt: researchgate. 369580033_First_Reported_Case_of_Gabriele-
30.05.2019 · PDF | Clinical characteristics Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability ...
Es fehlt: 369580033_First_Reported_Case_of_Gabriele- de_Vries_Syndrome_with_Spinal_Dysraphism
02.01.2024 · Herein, we report a case involving a rare early childhood epilepsy phenotype in a patient diagnosed with GADEVS based on the typical clinical ...
Es fehlt: q= https:// 369580033_First_Reported_Case_of_Gabriele-
30.05.2019 · Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected ...
Es fehlt: researchgate. 369580033_First_Reported_Case_of_Gabriele- de_Vries_Syndrome_with_Spinal_Dysraphism
Disease definition. A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual ...
Es fehlt: q= https:// researchgate. 369580033_First_Reported_Case_of_Gabriele- de_Vries_Syndrome_with_Spinal_Dysraphism