Literature DB >> 9695093

Comment on 'A further observation of corneal dystrophy and perceptive deafness in two siblings'.

F M Meire, V Pantelis, J Schuil.   

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Year:  1998        PMID: 9695093     DOI: 10.1076/opge.19.2.105.2316

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


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  2 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

Review 2.  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

  2 in total

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