Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

BACKGROUND: Noonan syndrome, cardio‐facio‐cutaneous syndrome (CFC) and Costello syndrome constitute a group of developmental disorders with an overlapping pattern of congenital anomalies. Each of these conditions can be caused by germline mutations in key components of the highly conserved Ras‐MAPK...

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Hlavní autoři: Zenker, Martin, Lehmann, Katarina, Schulz, Anna Leana, Barth, Helmut, Hansmann, Dagmar, Koenig, Rainer, Korinthenberg, Rudolf, Kreiss‐Nachtsheim, Martina, Meinecke, Peter, Morlot, Susanne, Mundlos, Stefan, Quante, Anne S, Raskin, Salmo, Schnabel, Dirk, Wehner, Lars‐Erik, Kratz, Christian P, Horn, Denise
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2007
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598066/
https://ncbi.nlm.nih.gov/pubmed/17056636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.046300
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