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Article

TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.

Orphanet journal of rare diseases - 16 Aug 2013

Sandbacka Maria, Laivuori Hannele, Freitas Érika, Halttunen Mervi, Jokimaa Varpu, Morin-Papunen Laure, Rosenberg Carla, Aittomäki Kristiina

Abstract excerpt

BACKGROUND: Müllerian aplasia (MA) is a congenital disorder of the female reproductive tract with absence of uterus and vagina with paramount impact on a woman's life. Despite intense research, no major genes have been found to explain the complex genetic etiology. METHODS AND RESULTS: We have used several genetic methods to study 112 patients with MA. aCGH identified CNVs in 8/50 patients (16%), including...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23954021
DOI: 10.1186/1750-1172-8-125
PMCID: PMC3847609

Genes

TBX6
LHX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.PMID 23954021Read ↗

Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.Semantic proximity Read ↗

Genomic imbalances associated with müllerian aplasiaSemantic proximity Read ↗

LHX1 mutation screening in 96 patients with müllerian duct abnormalities.Semantic proximity Read ↗

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaSemantic proximity Read ↗

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reportsSemantic proximity Read ↗

PAX2 in 192 Chinese women with Müllerian duct abnormalities: mutation analysis.Semantic proximity Read ↗

Novel mutations in the TP63 gene are potentially associated with Müllerian duct anomalies.Semantic proximity Read ↗

Müllerian agenesis: an update.Semantic proximity Read ↗

Lack of association of WNT5A mutations with Müllerian duct abnormalities.Semantic proximity Read ↗

Variants of the WNT7A gene in Chinese patients with müllerian duct abnormalities.Semantic proximity Read ↗

Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.Semantic proximity Read ↗

Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).Semantic proximity Read ↗

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