Produção Nacional
Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)
1998; Wiley; Volume: 80; Issue: 2 Linguagem: Inglês
10.1002/(sici)1096-8628(19981102)80
ISSN1096-8628
AutoresAna Cristina Puga, A.H.H. Nogueira, T.M. F�lix, Sérgio Kwitko,
Tópico(s)Corneal Surgery and Treatments
ResumoAmerican Journal of Medical GeneticsVolume 80, Issue 2 p. 177-179 Letter to the Editor Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome) A.C.S. Puga, A.C.S. Puga Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrazilSearch for more papers by this authorA.H.H. Nogueira, A.H.H. Nogueira Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrazilSearch for more papers by this authorT.M. Félix, Corresponding Author T.M. Félix [email protected] Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrazilServiço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-003, BrazilSearch for more papers by this authorS Kwitko, S Kwitko Serviço de Oftalmologia, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrazilSearch for more papers by this author A.C.S. Puga, A.C.S. Puga Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrazilSearch for more papers by this authorA.H.H. Nogueira, A.H.H. Nogueira Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrazilSearch for more papers by this authorT.M. Félix, Corresponding Author T.M. Félix [email protected] Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrazilServiço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-003, BrazilSearch for more papers by this authorS Kwitko, S Kwitko Serviço de Oftalmologia, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, BrazilSearch for more papers by this author First published: 15 December 1998 https://doi.org/10.1002/(SICI)1096-8628(19981102)80:2 3.0.CO;2-DCitations: 6AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES De Vitto LPM, Costa AO, Bevilaqua MC, Passerotti S, Richieri-Costa A (1997): New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: Report on two Brazilian patients. Am J Med Genet 70: 247–249. Gorlin RJ, Toriello HV, Cohen MM, Jr (1995): “ Hereditary Hearing Loss and Its Syndromes. Oxford Monographs on Medical Genetics No. 28.” New York: Oxford University Press, pp 122–123. Harboyan G, Mamo J, Der Kaloustian VM, Karam FA (1971): Congenital corneal dystrophy and progressive sensorineural deafness in a family. Arch Ophthalmol 85: 27–32. Judisch GF, Maumenee IH (1978): Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy. Am J Ophthalmol 85: 606–612. Kenyon KR, Antine B (1971): The pathogenesis of congenital hereditary endothelial dystrophy of the cornea. Am J Ophthalmol 72: 787–795. Kirkness CM, McCartney A, Rice NSC, Garner A, Steele ADM (1987): Congenital hereditary corneal oedema of Maumenee: Its clinical features, management, and pathology. Br J Ophthalmol 71: 130–144. Maumenee AE (1960): Congenital hereditary corneal dystrophy. Am J Ophthalmol 60: 1114–1124. Miller CA, Krachmer JH (1986): Corneal diseases. In WA Renie (ed): “ Goldberg's Genetic and Metabolic Eye Disease.” Boston: Little, Brown and Company, pp 297–367. Mullaney PB, Risco JM, Teichmann K, Millar L (1995): Congenital hereditary endothelial dystrophy associated with glaucoma. Ophthalmology 102: 186–192. Nemoto S (1986): Family cases of Harboyan syndrome. Otolaryngology 58: 161–165. Saudubray JM, Charpentier C (1995): Clinical phenotypes: Diagnosis/algorithms. In CR Scriver, AL Beaudet, WS Sly, D Valle (eds): “ The Metabolic and Molecular Bases of Inherited Disease.” New York: McGraw-Hill, pp 327–400. Citing Literature Volume80, Issue22 November 1998Pages 177-179 ReferencesRelatedInformation
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