Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome
Mikhael S, Dugar S, Morton M, Chorich LP, Tam KB, Lossie AC, Kim HG, Knight J, Taylor HS, Mukherjee S, Capra JA, Phillips JA, Friez M, Layman LC. Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome. Human Genetics 2021, 140: 667-680. PMID: 33469725, PMCID: PMC9211441, DOI: 10.1007/s00439-020-02239-y.Peer-Reviewed Original ResearchMeSH Keywords46, XX Disorders of Sex DevelopmentAnimalsCongenital AbnormalitiesExome SequencingFemaleGenetic VariationHumansMaleMiceMullerian DuctsTranslocation, GeneticUterusVaginaConceptsKüster-Hauser syndromeMouse modelHuman studiesCandidate variantsAgenesis/hypoplasiaMethodsWhole-exome sequencingMayer-RokitanskyCandidate genesCongenital absenceExome sequencingAuditory defectsSanger sequencingPatientsRare variantsSyndromeUterusMRKHVaginaFurther investigationDigenic combinationsPhysiological candidatesGenetic basisSame geneVariant analysisGenes