Ontology highlight
ABSTRACT:
SUBMITTER: Zenker M
PROVIDER: S-EPMC2598066 | biostudies-literature | 2007 Feb
REPOSITORIES: biostudies-literature
Zenker Martin M Lehmann Katarina K Schulz Anna Leana AL Barth Helmut H Hansmann Dagmar D Koenig Rainer R Korinthenberg Rudolf R Kreiss-Nachtsheim Martina M Meinecke Peter P Morlot Susanne S Mundlos Stefan S Quante Anne S AS Raskin Salmo S Schnabel Dirk D Wehner Lars-Erik LE Kratz Christian P CP Horn Denise D Kutsche Kerstin K
Journal of medical genetics 20061020 2
<h4>Background</h4>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 pathway, possibly reflecting a similar pathogenesis underlying the three disorders. Germline mutations in KRAS have recently been identified in a small number of patients with Noonan syndrome a ...[more]