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Article

Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome.

American journal of medical genetics. Part A - 1 Dec 2014

Quintero-Rivera Fabiola, Woo Jennifer S, Bomberg Eric M, Wallace W Dean, Peredo Jane, Dipple Katrina M

Abstract excerpt

Deletions of chromosome 17q12 [OMIM 614527] encompass a wide range of phenotypes, including renal cysts, diabetes mellitus, pancreatic structural abnormalities, genital tract anomalies, developmental delay, learning difficulties, and more recently, autism spectrum disorder and schizophrenia. To d...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25256560
DOI: 10.1002/ajmg.a.36767

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25256560-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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