Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: The value of initial clinical assessment

European Journal of Pediatrics

Volumn 171, Issue 1, 2012, Pages 51-58

  Papadopoulou, Anna ^a   Issakidis, Michalis ^a   Gole, Evangelia ^a   Kosma, Konstantina ^b   Fryssira, Helen ^b   Fretzayas, Andreas ^a   Nicolaidou, Polyxeni ^a   Kitsiou Tzeli, Sophia ^b  

^a NATIONAL AND KAPODISTRIAN UNIVERSITY OF ATHENS   (Greece)

^b UNIVERSITY OF ATHENS   (Greece)

Author keywords

Noonan syndrome; PTPN11; Pulmonary stenosis; Short stature; Thorax deformities

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE SHP 2;

ADOLESCENT; ARTICLE; CHILD; DNA POLYMORPHISM; FEMALE; GENOTYPE; GREECE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NOONAN SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; SCHOOL CHILD; SHORT STATURE; THORAX DEFORMITY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GREECE; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; NOONAN SYNDROME; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; YOUNG ADULT;

EID: 84857040483     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-011-1487-5     Document Type: Article

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