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, ...
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What is Gabriele de Vries syndrome symptoms?
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30.05.2019 · The diagnosis of Gabriele-de Vries syndrome is established in a proband who has one of the following on molecular genetic testing (see Table 1):.
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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.
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Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small ...
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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, Zhao P, Gu W, ...
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Clinical resource with information about Gabriele de Vries syndrome and its clinical features, YY1, available genetic tests from US and labs around the ...
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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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30.05.2019 · Bookshelf ID: NBK541730. Excerpt. Clinical characteristics: Gabriele-de Vries syndrome is characterized by mild-to-profound developmental ...
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