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Article

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

European journal of human genetics : EJHG - 1 Mar 2010

Nagamani Sandesh Chakravarthy Sreenath, Erez Ayelet, Shen Joseph, Li Chumei, Roeder Elizabeth, Cox Sarah, Karaviti Lefkothea, Pearson Margret, Kang Sung-Hae L, Sahoo Trilochan, Lalani Seema R, Stankiewicz Pawel, Sutton V Reid, Cheung Sau Wai

Abstract excerpt

Deletions in chromosome 17q12 encompassing the HNF1 beta gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes. Earlier reports of patients with this microdeletion syndrome have sugges...

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Share to Chromosome Aberrations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19844256
DOI: 10.1038/ejhg.2009.174
PMCID: PMC2987224

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19844256-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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