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Article

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

Nature genetics - 1 May 2005

van Bokhoven Hans, Celli Jacopo, van Reeuwijk Jeroen, Rinne Tuula, Glaudemans Bob, van Beusekom Ellen, Rieu Paul, Newbury-Ecob Ruth A, Chiang Chin, Brunner Han G

Abstract excerpt

Feingold syndrome is characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, syndactyly and cardiac defect. We show here that heterozygous mutations in the gene MYCN are present in Feingold syndrome. All mutations are predicted to disrupt both the full-length protein and a new shortened MYCN isoform, suggesting that multiple aspects of early embryogenesis and...

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Source

Identifiers

PMID: 15821734
DOI: 10.1038/ng1546

Genes

MYCN

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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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MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.PMID 15821734Read ↗

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