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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Pistocchi, A, Fazio, G, Cereda, A, Ferrari, L, Bettini, L R, Messina, G, Cotelli, F, Biondi, A, Selicorni, A, Massa, V
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2013
Schlagworte:
Original Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge