PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes

Pediatric Endocrinology Reviews

Volumn 2, Issue 4, 2005, Pages 669-674

  Ogata, Tsutomu ^a   Yoshida, Rie ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Genotype phenotype correlation; LEOPARD syndrome; Mutation; Noonan syndrome; PTPN11

Indexed keywords

GROWTH HORMONE; PHOSPHATASE; PHOSPHOPEPTIDE; PROTEIN SH2; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE NONRECEPTOR TYPE 11; UNCLASSIFIED DRUG;

CARDIOVASCULAR MALFORMATION; CLINICAL FEATURE; COMPARATIVE STUDY; ECG ABNORMALITY; ENZYME ACTIVITY; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HEMATOLOGIC DISEASE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LEOPARD SYNDROME; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR INTERACTION; MUTATIONAL ANALYSIS; MYELOPROLIFERATIVE DISORDER; NOONAN SYNDROME; PHENOTYPE; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; REVIEW;

CARDIOMYOPATHY, HYPERTROPHIC; CHILD; GENOTYPE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEOPARD SYNDROME; MUTATION; NOONAN SYNDROME; PHENOTYPE; PROTEIN-TYROSINE-PHOSPHATASE;

EID: 20444371557     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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