Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

@inproceedings{Ansari2014GeneticHI,
  title={Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism},
  author={Morad Ansari and Gemma Poke and Quentin R. V. Ferry and Kathleen A. Williamson and Roland Christopher Lochore Aldridge and Alison M. Meynert and Hemant Bengani and Cheng Yee Chan and H{\"u}lya Kayserili and Sahin Avci and Raoul C Hennekam and Anne Katrin Lampe and Egbert Johan Willem Redeker and T. F. R. Homfray and Alison Ross and Marie Falkenberg Smeland and Sahar Mansour and Michael Parker and Jacqueline A Cook and Miranda Splitt and Richard B. Fisher and Anthony A. Fryer and Alex C. Magee and Andrew O M Wilkie and Angela J Barnicoat and Angela F. Brady and Nicola S. Cooper and Catherine L. Mercer and Charu Deshpande and Christopher P. A. Bennett and Daniela T. Pilz and Deborah M. Ruddy and Deirdre Cilliers and Diana Sherice Johnson and Dragana J. Josifova and Elisabeth M Rosser and Elizabeth M. Thompson and Emma L. Wakeling and Esther Kinning and Fiona Jane Stewart and Frances A. Flinter and Katta Mohan Girisha and Helen J. Cox and Helen V. Firth and Helen J Kingston and Jamie S Wee and Jane A. Hurst and Jill Clayton-Smith and John Lorimer Tolmie and Julie N. Vogt and Katrina Tatton-Brown and Kate Emma Chandler and Katrina Rachel Prescott and Louise Elizabeth Wilson and Mahdiyeh Behnam and Meriel E. McEntagart and Rosemarie Davidson and Sally-Ann Lynch and Sanjay M. Sisodiya and Sarju G Mehta and Shane McKee and Shehla Mohammed and Simon T Holden and Soo-Mi Park and Susan E. Holder and Victoria Louise Harrison and Vivienne P M McConnell and Wayne W. K. Lam and Andrew J. Green and Dian Donnai and Maria A. K. Bitner-Glindzicz and D E Donnelly and Christoffer Nell{\aa}ker and Martin S. Taylor and David R. FitzPatrick},
  booktitle={Journal of medical genetics},
  year={2014}
}
BACKGROUND Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS. METHODS We screened 163 affected individuals for coding region… CONTINUE READING

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