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Volumn 186, Issue , 2015, Pages 13-15

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

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;

EID: 84929191440     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2015.03.260     Document Type: Article
Times cited : (7)

References (6)
  • 1
    • 84907671522 scopus 로고    scopus 로고
    • The RASopathies as an example of RAS/MAPK pathway disturbances - Clinical presentation and molecular pathogenesis of selected syndromes
    • N. Bezniakow, M. Gos, and E. Obersztyn The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes Dev. Period Med. 18 2014 285 296
    • (2014) Dev. Period Med. , vol.18 , pp. 285-296
    • Bezniakow, N.1    Gos, M.2    Obersztyn, E.3
  • 3
    • 77955574059 scopus 로고    scopus 로고
    • Noonan syndrome: Clinical aspects and molecular pathogenesis
    • M. Tartaglia, G. Zampino, and B.D. Gelb Noonan syndrome: clinical aspects and molecular pathogenesis Mol. Syndromol. 1 2010 2 26
    • (2010) Mol. Syndromol. , vol.1 , pp. 2-26
    • Tartaglia, M.1    Zampino, G.2    Gelb, B.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.