Noonan syndrome: Clinical aspects and molecular pathogenesis

Molecular Syndromology

Volumn 1, Issue 1, 2010, Pages 2-26

  Tartaglia, Marco ^a   Zampino, G ^a   Gelb, B D ^b  

^a CATHOLIC UNIVERSITY   (Italy)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Cardiofaciocutaneous syndrome; Costello syndrome; Genotype phenotype correlations; LEOPARD syndrome; Molecular basis of disease; Molecular epidemiology; Mutation analysis; Neurocardiofacialcutaneous syndrome family; Noonan syndrome; RAS signaling

Indexed keywords

B RAF KINASE; GUANINE NUCLEOTIDE; GUANOSINE TRIPHOSPHATASE; K RAS PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE 3; PROTEIN SHOC2; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN; RAF1 PROTEIN; RAS PROTEIN; SCAFFOLD PROTEIN; SOS PROTEIN; UNCLASSIFIED DRUG;

BLEEDING TENDENCY; CAFE AU LAIT SPOT; CANCER SUSCEPTIBILITY; CARDIOFACIOCUTANEOUS SYNDROME; CLINICAL FEATURE; COGNITIVE DEFECT; CONGENITAL HEART MALFORMATION; COSTELLO SYNDROME; CRYPTORCHISM; ECTODERMAL DYSPLASIA; ELECTROCARDIOGRAPHY; ENZYME ACTIVITY; FACE DYSMORPHIA; GENE MUTATION; GROWTH DISORDER; HEART MUSCLE CONDUCTION DISTURBANCE; HEMATOLOGIC MALIGNANCY; HUMAN; HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY; LEGIUS SYNDROME; LEOPARD SYNDROME; LYMPHATIC SYSTEM DISEASE; MENTAL RETARDATION MALFORMATION SYNDROME; MISSENSE MUTATION; MYRISTYLATION; NEUROFIBROMATOSIS; NEUROFIBROMATOSIS NOONAN SYNDROME; NOONAN SYNDROME; PATHOGENESIS; PERCEPTION DEAFNESS; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; SKELETON MALFORMATION;

EID: 77955574059     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000276766     Document Type: Review

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