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Article

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

European journal of medical genetics - 1 Jan 2000

Faguer Stanislas, Chassaing Nicolas, Bandin Flavio, Prouheze Cathie, Arveiler Benoît, Rooryck Caroline, Nogier Marie-Béatrice, Chauveau Dominique, Calvas Patrick, Decramer Stéphane

Abstract excerpt

Chromosomal imbalance of the 17q12 region (which includes the HNF1B transcription factor) has recently emerged as a frequent condition. 17q12 deletion was found in patients with various renal abnormalities, diabetes mellitus (MODY type 5), genital tract or liver test abnormalities, while 17q12 duplication was identified in a subset of patients with autism, mental retardation, epilepsy and/or schizophrenia but no...

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

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Identifiers

PMID: 21540130
DOI: 10.1016/j.ejmg.2011.03.010

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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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