Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts

Cornelia de Lange Syndrome is a severe genetic disorder characterized by malformations affecting multiple systems, with a common feature of severe mental retardation. Genetic variants within four genes (NIPBL (Nipped-B-like), SMC1A, SMC3, and HDAC8) are believed to be responsible for the majority of...

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Detalles Bibliográficos
Autores principales: Pistocchi, A, Fazio, G, Cereda, A, Ferrari, L, Bettini, L R, Messina, G, Cotelli, F, Biondi, A, Selicorni, A, Massa, V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824680/
https://www.ncbi.nlm.nih.gov/pubmed/24136230
http://dx.doi.org/10.1038/cddis.2013.371

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824680/
https://www.ncbi.nlm.nih.gov/pubmed/24136230
http://dx.doi.org/10.1038/cddis.2013.371

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