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New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: Report on two Brazilian patients

✍ Scribed by De Vitto, L. P. M.; Costa, O. A.; Bevilaqua, M. C.; Passerotti, S.; Richieri-Costa, A.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 718 KB
Volume: 70
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970613)70:3<247::aid-ajmg6>3.0.co;2-t

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✦ Synopsis

We report on two sisters with cataracts and progressive sensorineural hearing loss, starting in infancy. They were born to consanguineous parents, and there were no similar cases in the family. To our knowledge this is the first report on this autosomal recessive condition. Clinical and genetic aspects are discussed. Am. J. Med. Genet. 70:247-249, 1997.

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