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A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation

Suely Rodrigues dos Santos, Rafael Mina Piergiorge, J.M.A.M. Rocha, Bianca Barbosa Abdala, Andressa Pereira Gonçalves, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças

2022Metabolic Brain Disease12 citationsDOI

Topics & Concepts

HaploinsufficiencyMissense mutationYY1GeneticsBiologyX-inactivationPhenotypeGeneX chromosomePromoterGene expressionGenomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesGenetics and Neurodevelopmental Disorders
A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation | Litcius