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Article

Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions.

American journal of medical genetics. Part A - 1 Dec 2010

Roetzer Katharina M, Schwarzbraun Thomas, Obenauf Anna C, Hauser Erwin, Speicher Michael R

Abstract excerpt

DNA copy number alterations in 15q24 have repeatedly been reported in patients exhibiting mild to moderate developmental delay and dysmorphic features. To date, mainly microdeletions have been described, and comparison of overlapping regions allowed the definition of minimal critical regions (MCRs) for microdeletions as well as microduplications. These MCRs are associated with distinct phenotypes. Recently, a...

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PMID: 21108404
DOI: 10.1002/ajmg.a.33750

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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