Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
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Published:2014-08-14
Issue:10
Volume:51
Page:659-668
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ISSN:0022-2593
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Container-title:Journal of Medical Genetics
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language:en
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Short-container-title:J Med Genet
Author:
Ansari Morad, Poke Gemma, Ferry Quentin, Williamson Kathleen, Aldridge Roland, Meynert Alison M, Bengani Hemant, Chan Cheng Yee, Kayserili Hülya, Avci Şahin, Hennekam Raoul C M, Lampe Anne K, Redeker Egbert, Homfray Tessa, Ross Alison, Falkenberg Smeland Marie, Mansour SaharORCID, 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
Subject
Genetics(clinical),Genetics
Reference43 articles.
1. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance;Kline;Am J Med Genet A,2007 2. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations;Gillis;Am J Hum Genet,2004 3. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B;Krantz;Nat Genet,2004 4. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome;Tonkin;Nat Genet,2004 5. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches;Baquero-Montoya;Clin Genet,2014
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