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Article

Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.

Gene - 1 Apr 2014

Palumbo Pietro, Antona Vincenzo, Palumbo Orazio, Piccione Maria, Nardello Rosaria, Fontana Antonina, Carella Massimo, Corsello Giovanni

Abstract excerpt

Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with...

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PMID: 24487052
DOI: 10.1016/j.gene.2014.01.050

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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