Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

@article{Schoumans2007ComprehensiveMA,
  title={Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients},
  author={Jacqueline Schoumans and Josephine Wincent and Michela Barbaro and Tatjana Djureinovic and Paula Maguire and Lena Forsberg and Johan Staaf and Ann Charlotte Thuresson and {\AA}ke Borg and Ann Nordgren and Gunilla Malm and Britt Marie Anderlid},
  journal={European Journal of Human Genetics},
  year={2007},
  volume={15},
  pages={143-149}
}
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by distinctive dysmorphic facial features, severe growth and developmental delay and abnormalities of the upper limbs. About 50% of CdLS patients have been found to have heterozygous mutations in the NIPBL gene and a few cases were recently found to be caused by mutations in the X-linked SMC1L1 gene. We performed a mutation screening of all NIPBL coding exons by direct… CONTINUE READING

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