NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

@article{Gillis2004NIPBLMA,
  title={NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.},
  author={Lynette A. Gillis and J. Stuart McCallum and Maninder Kaur and Cheryl Descipio and Dinah Yaeger and Allison Mariani and Antonie D Kline and Hui-hua Li and Marcella Devoto and Laird G. Jackson and Ian D. Krantz},
  journal={American journal of human genetics},
  year={2004},
  volume={75 4},
  pages={610-23}
}
The Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphia, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. Both missense and protein-truncating mutations in NIPBL, the human homolog of the Drosophila melanogaster Nipped-B gene, have recently been reported to cause CdLS. The function of NIPBL in mammals is unknown. The Drosophila Nipped-B protein facilitates… CONTINUE READING
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