Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype

International Journal of Cardiology

Volumn 186, Issue , 2015, Pages 13-15

  Gulec, Elif Yilmaz ^a   Ocak, Zeynep ^a   Candan, Sukru ^a   Ataman, Esra ^a   Yarar, Coskun ^a  

^a Istanbul Kanuni Sultan Suleyman Research and Teaching Hospital   (Turkey)

Author keywords

Noonan syndrome; Novel mutation; PTPN11 gene

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; BODY HEIGHT; BODY WEIGHT; BRACHYDACTYLY; CASE REPORT; CHILD; ECHOCARDIOGRAPHY; EPICANTHUS; FEMALE; GENE; GENE MUTATION; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HETEROZYGOSITY; HUMAN; HYDRAMNIOS; HYPERTELORISM; INFANT; LETTER; LOW SET EAR; MISSENSE MUTATION; MONGOLIAN SPOT; MOTOR RETARDATION; NOONAN SYNDROME; PALPEBRAL FISSURE; PHENOTYPE; PRIORITY JOURNAL; PTPN11 GENE; PULMONARY VALVE STENOSIS; SCHOOL CHILD; WEBBED NECK; DNA MUTATIONAL ANALYSIS; GENETICS; METABOLISM; MUTATION;

DNA; PROTEIN TYROSINE PHOSPHATASE SHP 2;

CHILD; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; MUTATION; NOONAN SYNDROME; PHENOTYPE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 84929191440     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2015.03.260     Document Type: Article

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