Genetic and pathogenetic aspects of noonan syndrome and related disorders

Hormone Research

Volumn 72, Issue SUPPL. 2, 2009, Pages 57-63

  Zenker, Martin ^a,b  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

Author keywords

Neurofibromatosis; Noonan syndrome; RAS MAPK signaling; Short stature; Tumor predisposition

Indexed keywords

B RAF KINASE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; JANUS KINASE 2; K RAS PROTEIN; LONAFARNIB; MEVINOLIN; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; N (2,3 DIHYDROXYPROPOXY) 3,4 DIFLUORO 2 (2 FLUORO 4 IODOANILINO)BENZAMIDE; NEUROFIBROMIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN; RAS PROTEIN; SORAFENIB; SOS PROTEIN; STAT5B PROTEIN;

CANCER RISK; CARDIO FACIAL CUTANEOUS SYNDROME; CLINICAL FEATURE; CONFERENCE PAPER; COSTELLO SYNDROME; DISEASE MODEL; DRUG EFFECT; DRUG MECHANISM; FACE PROFILE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HEART DISEASE; HORMONE RESISTANCE; HUMAN; JUVENILE MYELOMONOCYTIC LEUKEMIA; LEOPARD SYNDROME; MOLECULAR MECHANICS; MULTIPLE MALFORMATION SYNDROME; NEUROFIBROMATOSIS; NONHUMAN; NOONAN SYNDROME; ONCOGENE; PATHOGENESIS; PRIORITY JOURNAL; SHORT STATURE; SIGNAL TRANSDUCTION; SOMATIC MUTATION;

BODY HEIGHT; COSTELLO SYNDROME; FEMALE; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMANS; LEOPARD SYNDROME; MALE; MITOGEN-ACTIVATED PROTEIN KINASES; MUTATION; NEUROFIBROMATOSES; NOONAN SYNDROME; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PROTO-ONCOGENE PROTEINS B-RAF; PROTO-ONCOGENE PROTEINS P21(RAS); SIGNAL TRANSDUCTION; SOS1 PROTEIN;

EID: 73849105802     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000243782     Document Type: Conference Paper

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