Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations

American Journal of Medical Genetics, Part A

Volumn 152, Issue 9, 2010, Pages 2176-2184

  Longoni, Mauro ^a   Moncini, Silvia ^a   Cisternino, Mariangela ^b   Morella, Ilaria M ^a   Ferraiuolo, Serena ^c   Russo, Silvia ^c   Mannarino, Savina ^b   Brazzelli, Valeria ^b   Coi, Paola ^b   Zippel, Renata ^a   Venturin, Marco ^a   Riva, Paola ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

Author keywords

Genotype phenotype correlation; GRB2; Jnk activation; Mutational analysis; Noonan syndrome; RAF1; SOS1

Indexed keywords

GROWTH FACTOR RECEPTOR BOUND PROTEIN 2; K RAS PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN; SOS PROTEIN;

ARTICLE; BIOINFORMATICS; CLINICAL ARTICLE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRAIT; GENETIC VARIABILITY; GENOTYPE; HUMAN; NOONAN SYNDROME; ONCOGENE N RAS; PHENOTYPE; PRIORITY JOURNAL; STRUCTURE ANALYSIS;

DNA MUTATIONAL ANALYSIS; FAMILY; GENOTYPE; GRB2 ADAPTOR PROTEIN; HUMANS; JNK MITOGEN-ACTIVATED PROTEIN KINASES; MUTATION, MISSENSE; NOONAN SYNDROME; PROTO-ONCOGENE PROTEINS C-RAF; RAC1 GTP-BINDING PROTEIN; RAS PROTEINS; SOS1 PROTEIN;

EID: 77956099847     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33564     Document Type: Article

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