| Literature DB >> 15821734 |
Hans van Bokhoven1, Jacopo Celli, Jeroen van Reeuwijk, Tuula Rinne, Bob Glaudemans, Ellen van Beusekom, Paul Rieu, Ruth A Newbury-Ecob, Chin Chiang, Han G Brunner.
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 are tightly regulated by MYCN dosage.Entities:
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Year: 2005 PMID： 15821734 DOI： 10.1038/ng1546
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330