Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

Cardio-facio-cutaneous syndrome is a sporadic multiple congenital anomalies/mental retardation condition principally caused by mutations in BRAF, MEK1, and MEK2. Mutations in KRAS and SHOC2 lead to a phenotype with overlapping features. In approximately 10–30% of individuals with a clinical diagnosi...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Allanson, Judith E, Annerén, Göran, Aoki, Yoki, Armour, Christine M, Bondeson, Marie-Louise, Cave, Helene, Gripp, Karen W, Kerr, Bronwyn, Nystrom, Anna-Maja, Sol-Church, Katia, Verloes, Alain, Zenker, Martin
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3086095/
https://ncbi.nlm.nih.gov/pubmed/21495173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30295
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge