Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

Roberts, Amy E; Araki, Toshiyuki; Swanson, Kenneth D; Montgomery, Kate T; Schiripo, Taryn A; Joshi, Victoria A; Li, Li; Yassin, Yosuf; Tamburino, Alex M; Neel, Benjamin G; Kucherlapati, Raju S

Roberts, Amy E; Araki, Toshiyuki; Swanson, Kenneth D; Montgomery, Kate T; Schiripo, Taryn A; Joshi, Victoria A; Li, Li; Yassin, Yosuf; Tamburino, Alex M; Neel, Benjamin G; Kucherlapati, Raju S.

Affiliation

Roberts AE; Harvard Partners Center for Genetics and Genomics and Harvard Medical School, Boston, Massachusetts 02115, USA.

Nat Genet ; 39(1): 70-4, 2007 Jan.

Article in En | MEDLINE | ID: mdl-17143285

Subject(s)

Germ-Line Mutation; Noonan Syndrome/genetics; SOS1 Protein/genetics; Adolescent; Adult; Child; Child, Preschool; DNA Mutational Analysis; Female; Genetic Testing; Humans; Infant; Intracellular Signaling Peptides and Proteins/genetics; Male; Models, Biological; Models, Molecular; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Protein Tyrosine Phosphatases/genetics; SOS1 Protein/chemistry

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Collection: 01-internacional Database: MEDLINE Main subject: Germ-Line Mutation / SOS1 Protein / Noonan Syndrome Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2007 Type: Article Affiliation country: United States

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