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Article

5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.

European journal of medical genetics - 1 Jan 2000

Nakamura Eiki, Makita Yoshio, Okamoto Toshio, Nagaya Ken, Hayashi Tokitsugi, Sugimoto Masaya, Manabe Hiromi, Taketazu Genya, Kajino Hiroki, Fujieda Kenji

Abstract excerpt

All patients with terminal deletion of chromosome 15q have been reported to show intrauterine growth retardation, postnatal growth retardation, abnormal facial appearance and developmental delay. Haploinsufficiency of IGF1R was considered to be responsible for these symptoms. However, it is difficult to explain other symptoms seen in some of the patients, such as congenital heart defects by the absence of IGF1R...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 15

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Source

Identifiers

PMID: 21172461
DOI: 10.1016/j.ejmg.2010.12.004

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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