Clinical and molecular characterization of 40 patients with Noonan syndrome

European Journal of Medical Genetics

Volumn 51, Issue 6, 2008, Pages 566-572

  Ferrero, Giovanni Battista ^a   Baldassarre, Giuseppina ^a   Delmonaco, Angelo Giovanni ^a   Biamino, Elisa ^a   Banaudi, Elena ^b   Carta, Claudio ^c   Rossi, Cesare ^d   Silengo, Margherita Cirillo ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^c ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^d UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Noonan syndrome; PTPN11; SOS1

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; RAF PROTEIN; SOS PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BONE DISEASE; CARDIOVASCULAR DISEASE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HEMATOLOGIC DISEASE; HUMAN; INFANT; MALE; MISSENSE MUTATION; NOONAN SYNDROME; ONCOGENE K RAS; ONCOGENE RAS; PATHOGENESIS; PHENOTYPE; PREVALENCE; PROTEIN TYROSINE PHOSPHATASE NON RECEPTOR 11 GENE; SHORT STATURE;

HUMANS; MUTATION, MISSENSE; NOONAN SYNDROME; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 56649102280     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.06.011     Document Type: Article

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