Literature DB >> 9805138

Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)

A C Puga, A H Nogueira, T M Félix, S Kwitko.   

Abstract

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Year:  1998        PMID： 9805138     DOI： 10.1002/(sici)1096-8628(19981102)80:2<177::aid-ajmg17>3.0.co;2-d

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  4 in total

1.  Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

Authors:  Julie Desir; Graciela Moya; Orit Reish; Nicole Van Regemorter; Hilde Deconinck; Karen L David; Françoise M Meire; Marc J Abramowicz
Journal:  J Med Genet       Date:  2007-01-12       Impact factor: 6.318

2.  The genetics of Fuchs' corneal dystrophy.

Authors:  Benjamin W Iliff; S Amer Riazuddin; John D Gottsch
Journal:  Expert Rev Ophthalmol       Date:  2012-08

3.  Rehabilitation with cochlear implant in patient with harboyan syndrome.

Authors:  Lauren Medeiros Paniagua; Maria Elza Kazumi Yamaguti Dorfman; Luiz Lavinsky; Pricila Sleifer
Journal:  Int Arch Otorhinolaryngol       Date:  2013-10

Review 4.  Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).

Authors:  Julie Desir; Marc Abramowicz
Journal:  Orphanet J Rare Dis       Date:  2008-10-15       Impact factor: 4.123
  4 in total

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