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Article

Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.

Human reproduction (Oxford, England) - 1 Sept 2012

Ledig S, Brucker S, Barresi G, Schomburg J, Rall K, Wieacker P

Abstract excerpt

BACKGROUND: The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women who usually have normal ovaries and a 46, XX karyotype. MRKH can occur as an isolated form (type I) or in combination with various malforma...

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Source

Identifiers

PMID: 22740494
DOI: 10.1093/humrep/des206

Genes

LHX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22740494-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.PMID 22740494Read ↗

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