Article
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Journal of medical genetics - 1 Oct 2014
Ansari Morad, Poke Gemma, Ferry Quentin, Williamson Kathleen, Aldridge Roland, Meynert Alison M, Bengani Hemant, Chan Cheng Yee, Kayserili Hülya, Avci Sahin, Hennekam Raoul C M, Lampe Anne K, Redeker Egbert, Homfray Tessa, Ross Alison, Falkenberg Smeland Marie, Mansour Sahar, Parker Michael J, Cook Jacqueline A, Splitt Miranda, Fisher Richard B, Fryer Alan, Magee Alex C, Wilkie Andrew, Barnicoat Angela, Brady Angela F, Cooper Nicola S, Mercer Catherine, Deshpande Charu, Bennett Christopher P, Pilz Daniela T, Ruddy Deborah, Cilliers Deirdre, Johnson Diana S, Josifova Dragana, Rosser Elisabeth, Thompson Elizabeth M, Wakeling Emma, Kinning Esther, Stewart Fiona, Flinter Frances, Girisha Katta M, Cox Helen, Firth Helen V, Kingston Helen, Wee Jamie S, Hurst Jane A, Clayton-Smith Jill, Tolmie John, Vogt Julie, Tatton-Brown Katrina, Chandler Kate, Prescott Katrina, Wilson Louise, Behnam Mahdiyeh, McEntagart Meriel, Davidson Rosemarie, Lynch Sally-Ann, Sisodiya Sanjay, Mehta Sarju G, McKee Shane A, Mohammed Shehla, Holden Simon, Park Soo-Mi, Holder Susan E, Harrison Victoria, McConnell Vivienne, Lam Wayne K, Green Andrew J, Donnai Dian, Bitner-Glindzicz Maria, Donnelly Deirdre E, Nellåker Christoffer, Taylor Martin S, FitzPatrick David R
Abstract excerpt
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...
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