Original paper
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
Abstract
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...
Paper Details
Title
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
Published Date
Apr 10, 2005
Journal
Volume
37
Issue
5
Pages
465 - 467
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Notes
History