Spectrum of mutations in Noonan syndrome and their correlation with phenotypes

Journal of Pediatrics

Volumn 159, Issue 6, 2011, Pages 1029-1035

  Lee, Beom Hee ^a   Kim, Jae Min ^a   Jin, Hye Young ^a   Kim, Gu Hwan ^a   Choi, Jin Ho ^a   Yoo, Han Wook ^a  

^a University of Ulsan   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; K RAS PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; PEPTIDES AND PROTEINS; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN; RAF1 PROTEIN; RAS PROTEIN; SHOC2 PROTEIN; SOS PROTEIN; SPRED1 PROTEIN; SPROUTY PROTEIN; SPRY1 PROTEIN; SPRY2 PROTEIN; SPRY3 PROTEIN; SPRY4 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CARDIOFACIOCUTANEOUS SYNDROME; CHILD; CLINICAL FEATURE; COSTELLO SYNDROME; ENZYME ACTIVITY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; LEOPARD SYNDROME; MAJOR CLINICAL STUDY; MALE; MULTIPLE MALFORMATION SYNDROME; NOONAN SYNDROME; ONCOGENE H RAS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SIGNAL TRANSDUCTION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; NOONAN SYNDROME; PHENOTYPE; YOUNG ADULT;

EID: 80055098242     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2011.05.024     Document Type: Article

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