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Volumn 113, Issue 3, 2002, Pages 286-290

Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies

Author keywords

Autosomal dominant; Coarctation of the aorta; Hypertrophic cardiomyopathy; New mutation; Noonan syndrome

Indexed keywords

ADULT; AORTA COARCTATION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; NOONAN SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNDROME DELINEATION; ADOLESCENT; CHILD; GENETICS; IN VITRO STUDY; INFANT; MIDDLE AGED; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOPHYSIOLOGY;

EID: 0036888872     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10782     Document Type: Article
Times cited : (11)

References (12)
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  • 3
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    • The inheritance of hypertrophic cardiomyopathy
    • Burch M, Blair E. 1999. The inheritance of hypertrophic cardiomyopathy. Pediatr Cardiol 20:313-316.
    • (1999) Pediatr Cardiol , vol.20 , pp. 313-316
    • Burch, M.1    Blair, E.2
  • 4
    • 0021281935 scopus 로고
    • Neck web and congenital heart defects: A pathogenic association in Turner syndrome?
    • Clark EB. 1984. Neck web and congenital heart defects: A pathogenic association in Turner syndrome? Teratology 29:355-361.
    • (1984) Teratology , vol.29 , pp. 355-361
    • Clark, E.B.1
  • 6
    • 0029930189 scopus 로고    scopus 로고
    • Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata
    • Hasegawa T, Ogata T, Hasegawa Y, Honda M, Nagai T, Fukushima Y, Nakahori Y, Matsuo N. 1996. Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata. Hum Gene 97:564-567.
    • (1996) Hum Gene , vol.97 , pp. 564-567
    • Hasegawa, T.1    Ogata, T.2    Hasegawa, Y.3    Honda, M.4    Nagai, T.5    Fukushima, Y.6    Nakahori, Y.7    Matsuo, N.8
  • 8
  • 10
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    • Familial coarctation of the aorta in three generations
    • Stoll C, Alembik Y, Dott B. 1999. Familial coarctation of the aorta in three generations. Ann Genet 42:174-176.
    • (1999) Ann Genet , vol.42 , pp. 174-176
    • Stoll, C.1    Alembik, Y.2    Dott, B.3
  • 11
    • 0023057122 scopus 로고
    • Les coarctations aortiques familiales: À propos d'une famille
    • Vaksmann G, Brevière GM, Rey C, Dupuis C. 1986. Les coarctations aortiques familiales: À propos d'une famille. Presse Med 15:1879-1880.
    • (1986) Presse Med , vol.15 , pp. 1879-1880
    • Vaksmann, G.1    Brevière, G.M.2    Rey, C.3    Dupuis, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.