Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

Nyström, A-M; Ekvall, S; Berglund, E; Björkqvist, M; Braathen, G; Duchen, K; Enell, H; Holmberg, E; Holmlund, U; Olsson-Engman, M; Annerén, G; Bondeson, M-L

Nyström, A-M; Ekvall, S; Berglund, E; Björkqvist, M; Braathen, G; Duchen, K; Enell, H; Holmberg, E; Holmlund, U; Olsson-Engman, M; Annerén, G; Bondeson, M-L.

Affiliation

Nyström AM; Department of Genetics and Pathology, Uppsala University, SE-751 85 Uppsala, Sweden.

J Med Genet ; 45(8): 500-6, 2008 Aug.

Article in En | MEDLINE | ID: mdl-18456719

Subject(s)

Craniofacial Abnormalities/genetics; Base Sequence; Child; Child, Preschool; Craniofacial Abnormalities/physiopathology; DNA Mutational Analysis; Female; Humans; MAP Kinase Kinase 1/genetics; MAP Kinase Kinase 2/genetics; Male; Noonan Syndrome/genetics; Noonan Syndrome/physiopathology; Proto-Oncogene Proteins/genetics; Proto-Oncogene Proteins B-raf/genetics; Proto-Oncogene Proteins p21(ras); SOS1 Protein/genetics; ras Proteins/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Craniofacial Abnormalities Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: J Med Genet Year: 2008 Document type: Article

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