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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Hlavní autoři: Pistocchi, A, Fazio, G, Cereda, A, Ferrari, L, Bettini, L R, Messina, G, Cotelli, F, Biondi, A, Selicorni, A, Massa, V
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2013
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3824680/
https://ncbi.nlm.nih.gov/pubmed/24136230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/cddis.2013.371
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