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Article

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association.

Clinical dysmorphology - 1 Jan 2008

Uliana Vera, Giordano Nicola, Caselli Rossella, Papa Filomena Tiziana, Ariani Francesca, Marcocci Claudio, Gianetti Elena, Martini Giuseppe, Papakostas Panagiotis, Rollo Fabio, Meloni Ilaria, Mari Francesca, Priolo Manuela, Renieri Alessandra, Nuti Ranuccio

Abstract excerpt

The MURCS association [Müllerian Duct aplasia or hypoplasia (M), unilateral renal agenesis (UR) and cervicothoracic somite dysplasia (CS)] manifests itself as Müllerian Duct aplasia or hypoplasia, unilateral renal agenesis and cervicothoracic somite dysplasia. We report on a 22-year-old woman with bicornuate uterus, right renal agenesis, C2-C3 vertebral fusion (MURCS association) and 22q11.2 deletion. Angio-MRI...

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

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Identifiers

PMID: 18049074
DOI: 10.1097/MCD.0b013e3282ef97ee

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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.

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