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Article

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

Wiener klinische Wochenschrift - 1 Jan 2008

Hofstetter Gerda, Concin Nicole, Marth Christian, Rinne Tuula, Erdel Martin, Janecke Andreas

Abstract excerpt

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by the congenital absence of uterus and upper part of the vagina as a result of Mullerian duct agenesis. The combination of MRKH syndrome with renal anomalies and cervicothoracic dysplasia is known as MURCS association (Mullerian aplasia, Renal anomalies, and Cervicothoracic Somite dysplasia). The etiology remains poorly understood. We delineate this...

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Source

Identifiers

PMID: 18726671
DOI: 10.1007/s00508-008-0995-4

Genes

TBX3
TBX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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