Genotype-phenotype correlations in MYCN-related Feingold syndrome.

@article{Marcelis2008GenotypephenotypeCI,
  title={Genotype-phenotype correlations in MYCN-related Feingold syndrome.},
  author={Carlo L Marcelis and Frans A. Hol and Gail E. Graham and Paul Nicolas Maria Antonius Rieu and Rich{\'a}rd Kellermayer and Rowdy P. P. Meijer and Dorien T Lugtenberg and H. Scheffer and Hans van Bokhoven and Han G. Brunner and Arjan de Brouwer},
  journal={Human mutation},
  year={2008},
  volume={29 9},
  pages={1125-32}
}
Feingold syndrome (FS) is the most frequent cause of familial syndromic gastrointestinal atresia and follows autosomal dominant inheritance. FS is caused by germline mutations in or deletions of the MYCN gene. Previously, 12 different heterozygous MYCN mutations and two deletions containing multiple genes including MYCN were described. All these mutations result in haploinsufficiency of both the canonical MYCN protein and the shorter isoform, DeltaMYCN. We report 11 novel mutations including… CONTINUE READING
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