Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Date
2014Author
Fryer, Alan
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.
Nellaker, Christoffer
Taylor, Martin S.
FitzPatrick, David R.
Avci, Sahin
Kayserili, Hulya
Ansari, Morad
Poke, Gemma
Ferry, Quentin
Williamson, Kathleen
Aldridge, Roland
Meynert, Alison M.
Bengani, Hemant
Chan, Cheng Yee
Hennekam, Raoul C. M.
Lampe, Anne K.
Redeker, Egbert
Homfray, Tessa
Ross, Alison
Smeland, Marie Falkenberg
Mansour, Sahar
Parker, Michael J.
Cook, Jacqueline A.
Splitt, Miranda
Fisher, Richard B.
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
Metadata
Show full item recordAbstract
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.
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