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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. Yang J, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2281. doi: 10.1002/mgg3.2281. Epub 2023 Sep 1. Mol Genet Genomic Med. 2024. PMID: 37658636 Free PMC article. Review.
BACKGROUND: Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease characterized by global development delay/intellectual disability, delayed language development, feeding difficulties, and distinctive facial dysmorphism. ...Finally, w …
BACKGROUND: Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease characterized by global deve …
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.
Khamirani HJ, Zoghi S, Namdar ZM, Kamal N, Dianatpour M, Tabei SMB, Mohammadi S, Dehghanian F, Farbod Z, Dastgheib SA. Khamirani HJ, et al. Ann Hum Genet. 2022 Jan;86(1):52-62. doi: 10.1111/ahg.12448. Epub 2021 Nov 3. Ann Hum Genet. 2022. PMID: 34729769 Review.
BACKGROUND: Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in YY1. ...Finally, we provide a case-based review of the clinical features associated with Gabriele-de Vr …
BACKGROUND: Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pat …