Publications:

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Journal Of Medical Genetics

Nava, Caroline C; Hanna, Nadine N; Michot, Caroline C; Pereira, Sabrina S; Pouvreau, Nathalie N; Niihori, Tetsuya T; Aoki, Yoko Y; Matsubara, Yoichi Y; Arveiler, Benoit B; Lacombe, Didier D; Pasmant, Eric E; Parfait, Béatrice B; Baumann, Clarisse C; Héron, Delphine D; Sigaudy, Sabine S; Toutain, Annick A; Rio, Marlène M; Goldenberg, Alice A; Leheup, Bruno B; Verloes, Alain A; Cavé, Hélène H

Publication Date: 2007-12

Variant appearance in text: BRAF: G469D

PubMed Link: 17704260

Variant Present in the following documents:

• Main text

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