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Volumn 50, Issue 6, 2013, Pages 599-601

Bardet-biedl syndrome - A rare cause of cardiomyopathy

Author keywords

Bardet Biedl syndrome; Cardiomyopathy

Indexed keywords

ADOLESCENT; BARDET BIEDL SYNDROME; CARDIOMEGALY; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; COUGHING; DISEASE ASSOCIATION; DYSPNEA; ECHOCARDIOGRAPHY; HEPATOMEGALY; HUMAN; HYPOGONADISM; KIDNEY MALFORMATION; LEARNING DISORDER; MALE; OBESITY; OPHTHALMOSCOPY; POLYDACTYLY; RARE DISEASE; RETINITIS PIGMENTOSA; SHORT SURVEY; TACHYCARDIA; TACHYPNEA; THORAX RADIOGRAPHY; TRICUSPID VALVE REGURGITATION; BARDET-BIEDL SYNDROME; CARDIOMYOPATHIES;

EID: 84880009080     PISSN: 00196061     EISSN: 09747559     Source Type: Journal    
DOI: None     Document Type: Short Survey
Times cited : (4)

References (7)
  • 1
    • 0000672298 scopus 로고
    • Investigations cliniques et ge netiques sur le syndrome de Bardet-Biedl en Suisse
    • Amman F. Investigations cliniques et ge netiques sur le syndrome de Bardet-Biedl en Suisse. J Genet Hum. 1970;18:1-310. [Article in French].
    • (1970) J Genet Hum , vol.18 , pp. 1-310
    • Amman, F.1
  • 2
    • 0024472754 scopus 로고
    • The cardinal manifestations of Bardet Biedl syndrome, a form of Laurence-Moon-Biedl syndrome
    • 2779627 10.1056/NEJM198910123211503 1:STN:280:DyaL1MzosVyitg%3D%3D
    • Green J, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. New Engl J Med. 1989;321:1002-1009.
    • (1989) New Engl J Med , vol.321 , pp. 1002-1009
    • Green, J.1    Parfrey, P.S.2    Harnett, J.D.3    Farid, N.R.4    Cramer, B.C.5    Johnson, G.6
  • 3
    • 0027963165 scopus 로고
    • Cardiac abnormalities in the Bardet-Biedl syndrome: Echocardiographic studies of 22 patients
    • 10.1002/ajmg.1320520208
    • Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. Am J Med Genet. 1994;52:16
    • (1994) Am J Med Genet , vol.52 , pp. 16
    • Elbedour, K.1    Zucker, N.2    Zalzstein, E.3    Barki, Y.4    Carmi, R.5
  • 4
    • 0033062278 scopus 로고    scopus 로고
    • New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
    • 10874630 1:STN:280:DC%2BD3czjt1yjtg%3D%3D
    • Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36: 437-446.
    • (1999) J Med Genet , vol.36 , pp. 437-446
    • Beales, P.L.1    Elcioglu, N.2    Woolf, A.S.3    Parker, D.4    Flinter, F.A.5
  • 5
    • 2442769311 scopus 로고
    • Heart disease in the Laurence-Moon- Biedl-Bardet syndrome: A review and a report of three brothers
    • 14210859 10.1016/S0022-3476(64)80403-0 1:STN:280:DyaF2M%2FhsFamsw%3D%3D
    • McLoughlin TG, Krovetz LJ, Schiebler GL. Heart disease in the Laurence-Moon- Biedl-Bardet syndrome: A review and a report of three brothers. J Pediatr. 1964;65:388-399.
    • (1964) J Pediatr , vol.65 , pp. 388-399
    • McLoughlin, T.G.1    Krovetz, L.J.2    Schiebler, G.L.3
  • 7
    • 58049128510 scopus 로고    scopus 로고
    • A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family
    • 19093007 1:CAS:528:DC%2BD1MXnslKitg%3D%3D
    • Yang Z, Yang Y, Zhao P, Chen K, Chen B, Lin Y, et al. A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. Mol Vis. 2008;14:2304-2308.
    • (2008) Mol Vis , vol.14 , pp. 2304-2308
    • Yang, Z.1    Yang, Y.2    Zhao, P.3    Chen, K.4    Chen, B.5    Lin, Y.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.