Noonan syndrome and clinically related disorders

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 25, Issue 1, 2011, Pages 161-179

  Tartaglia, Marco ^a   Gelb, Bruce D ^b   Zenker, Martin ^c  

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

Author keywords

CBL mutation associated syndrome; diagnosis; genotype phenotype correlations; LEOPARD syndrome; Noonan syndrome; Noonan like syndrome with loose anagen hair; pathogenetic mechanisms; patient management; RAS signaling

Indexed keywords

B RAF KINASE; GUANOSINE DIPHOSPHATE; GUANOSINE TRIPHOSPHATE; K RAS PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; PROTEIN TYROSINE PHOSPHATASE SHP 2; SOS PROTEIN;

AORTA COARCTATION; ARTICLE; ATTENTION DEFICIT DISORDER; BLEEDING TENDENCY; COGNITIVE DEFECT; CONGENITAL HEART DISEASE; COSTELLO SYNDROME; CRYPTORCHISM; DISEASE ASSOCIATION; EPICANTHUS; FACE DYSMORPHIA; FALLOT TETRALOGY; FEEDING DISORDER; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LEOPARD SYNDROME; LEUKEMIA; LOOSE ANAGEN HAIR SYNDROME; LYMPHANGIECTASIS; LYMPHEDEMA; MALOCCLUSION; MITRAL VALVE DISEASE; MOLECULAR PATHOLOGY; MYOPIA; NEUROFIBROMATOSIS; NOONAN SYNDROME; PATENT DUCTUS ARTERIOSUS; POSTNATAL GROWTH; PTOSIS; PULMONARY VALVE STENOSIS; SIGNAL TRANSDUCTION; SKELETON MALFORMATION; STRABISMUS; THROMBOCYTOPENIA; WEBBED NECK;

EID: 79952502839     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beem.2010.09.002     Document Type: Review

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