LEOPARD syndrome: Clinical features and gene mutations

Molecular Syndromology

Volumn 3, Issue 4, 2012, Pages 145-157

  Martnez Quintana, E ^a   Rodrguez Gonzlez, F ^b  

^a HOSPITAL UNIVERSITARIO INSULAR DE GRAN CANARIA   (Spain)

^b HOSPITAL UNIVERSITARIO DE GRAN CANARIA DR NEGRÍN   (Spain)

Author keywords

BRAF; Gene; LEOPARD; Mutation; PTPN11; RAF1; RAR MAPK pathway

Indexed keywords

B RAF KINASE; CALCIUM CHANNEL BLOCKING AGENT; GROWTH HORMONE; GUANINE NUCLEOTIDE EXCHANGE FACTOR; GUANOSINE DIPHOSPHATE; GUANOSINE TRIPHOSPHATE; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN;

CLINICAL FEATURE; COSTELLO SYNDROME; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; GENITAL MALFORMATION; GENOTYPE; GROWTH RETARDATION; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HYPERTELORISM; HYPERTROPHIC CARDIOMYOPATHY; LEOPARD SYNDROME; MOLECULAR MECHANICS; NEUROFIBROMATOSIS; ONCOGENE H RAS; ONCOGENE K RAS; ONCOGENE N RAS; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; REVIEW; URINARY TRACT DISEASE;

EID: 84868004666     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000342251     Document Type: Review

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