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

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 repre...

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Detalles Bibliográficos
Main Authors:	Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, A, Bengani, H, Chan, C, Kayserili, H, Avci, S, Hennekam, R, Lampe, A, Redeker, E, Homfray, T, Ross, A, Falkenberg Smeland, M, Mansour, S, Parker, M, Cook, J, Splitt, M, Fisher, R, Fryer, A, Magee, A, Wilkie, A, Barnicoat, A
Formato:	Journal article
Idioma:	English
Publicado:	2014

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

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