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Article

Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.

American journal of medical genetics. Part A - 1 Jan 2013

Doelken Sandra C, Seeger Karl, Hundsdoerfer Patrick, Weber-Ferro Wencke, Klopocki Eva, Graul-Neumann Luitgard

Abstract excerpt

Distal 15q25.2 microdeletions have recently been reported as a copy number variation (CNV) locus for neurodevelopmental and neuropsychiatric disorders with variable outcome. In addition, more proximal microdeletions of 15q25.2 have been described as a susceptibility locus for cognitive deficits, congenital diaphragmatic hernia (CDH), and Diamond-Blackfan anaemia (DBA). We describe two patients with 15q25.2...

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Identifiers

PMID: 23239641
DOI: 10.1002/ajmg.a.35695

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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