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Article

17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

American journal of medical genetics. Part A - 1 Sept 2012

Dixit Abhijit, Patel Chirag, Harrison Rachel, Jarvis Joanna, Hulton Sally, Smith Nigel, Yates Katherine, Silcock Lee, McMullan Dominic J, Suri Mohnish

Abstract excerpt

Deletions of 17q12 are associated with renal cysts and maturity onset diabetes of the young, and have also been identified in women with reproductive tract anomalies due to Mullerian aplasia. Although initially identified in patients with normal cognitive ability, some patients with this recurrent microdeletion syndrome have learning problems. We identified a 17q12 microdeletion in three patients with renal...

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Source

Identifiers

PMID: 22887843
DOI: 10.1002/ajmg.a.35520

Provenance

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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