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Next generation phenotyping with quantitative narration for DEGCAGS syndrome.
Freeman R, Noronha A, Woods J. Freeman R, et al. Am J Med Genet A. 2023 Apr;191(4):1020-1025. doi: 10.1002/ajmg.a.63111. Epub 2023 Jan 6. Am J Med Genet A. 2023. PMID: 36607994 Review.
To address this limitation, we developed a next generation phenotyping workflow to phenotypically characterize developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities (DEGCAGS). We identified 15 people affected with DEGCAGS
To address this limitation, we developed a next generation phenotyping workflow to phenotypically characterize developmental delay with gast …
Clinical and ocular abnormalities in DEGCAGS syndrome-Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.
Ali SM, AlMasri DA, Prada CE, Lin D, Bosley TM, Kozak I. Ali SM, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2329. doi: 10.1002/mgg3.2329. Epub 2023 Nov 28. Mol Genet Genomic Med. 2024. PMID: 38014480 Free PMC article. Review.
Our patient was found to be homozygous for a novel pathogenic missense variant in theZNF699 zinc finger gene on chromosome 19p13 causing a syndrome known as Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS
Our patient was found to be homozygous for a novel pathogenic missense variant in theZNF699 zinc finger gene on chromosome 19p13 causing a …