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Article

Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review.

Molecular genetics & genomic medicine - 1 Jan 2024

Yang Jingjing, Yu Chaonan, Lyn Nan, Liu Lei, Li Dongxiao, Shang Qing

Abstract excerpt

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. It is caused by pathogenic variants in YY1. METHODS: The current report describes a female patient with motor delay and a facial dysmorphism phenotype. We identified pathogenic...

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Identifiers

PMID: 37658636
DOI: 10.1002/mgg3.2281
PMCID: PMC10767417

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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