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Article

Delineating the 17q24.2-q24.3 microdeletion syndrome phenotype.

European journal of medical genetics - 1 Dec 2012

Lestner Jodi M, Ellis Richard, Canham Natalie

Abstract excerpt

We present an 11-year-old girl with a 2.3 Mb de novo interstitial deletion in chromosome 17q24.2-q24.3 identified by array CGH. The phenotype in this case includes skeletal malformations (lower limb bowing, progressive scoliosis and dental abnormalities), feeding problems, mild learning difficulties, and a characteristic facial appearance. Much of the phenotype is attributable to the deletion of KCNJ2, which...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22982078
DOI: 10.1016/j.ejmg.2012.08.003

Genes

KCNJ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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