MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
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Publication year
2005Source
Nature Genetics, 37, 5, (2005), pp. 465-7ISSN
Publication type
Article / Letter to editor
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Organization
Human Genetics
CMBI
Physiology
Surgery
Former Organization
Bioinformatics (umcn)
Journal title
Nature Genetics
Volume
vol. 37
Issue
iss. 5
Page start
p. 465
Page end
p. 7
Subject
DCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; NCEBP 14: Cardiovascular diseases; NCMLS 6: Genetics and epigenetic pathways of disease; UMCN 5.1: Genetic defects of metabolism; UMCN 5.3: Cellular energy metabolismAbstract
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 postnatal brain growth in humans are tightly regulated by MYCN dosage.
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- Academic publications [238441]
- Electronic publications [122519]
- Faculty of Medical Sciences [90373]
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