Wird geladen...

Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation

Noonan syndrome (NS), the most common single-gene cause of congenital heart disease, is an autosomal dominant disorder that also features proportionate short stature, facial abnormalities, and an increased risk of myeloproliferative disease. Germline-activating mutations in PTPN11, which encodes the...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Araki, Toshiyuki, Chan, Gordon, Newbigging, Susan, Morikawa, Lily, Bronson, Roderick T., Neel, Benjamin G.
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2009
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2649209/
https://ncbi.nlm.nih.gov/pubmed/19251646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0810053106
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!