The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome

The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS–MAP kinase) pathway. The conditions overlap and...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Eur J Hum Genet
Hlavní autoři: Joyce, Sarah, Gordon, Kristiana, Brice, Glen, Ostergaard, Pia, Nagaraja, Rani, Short, John, Moore, Sandra, Mortimer, Peter, Mansour, Sahar
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4930084/
https://ncbi.nlm.nih.gov/pubmed/26242988
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.175
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky