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A Presumptive New Variant of Norrie's Disease

Overview
Journal J Med Genet
Specialty Genetics
Date 1979 Apr 1
PMID 572429
Citations 6
Authors
C A Moreira-Filho
I Neustein
Affiliations
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Abstract

The present report describes a Brazilian Negro sibship with six males affected by a presumptive new variant of Norrie's disease, an X-linked congenital oculo-acoustical-cerebral degeneration. In addition to the typical stigmata of the disease, all the patients were microcephalic and two of them had cryptorchidism. Possible non-genetic aetiology was investigated with negative results. Xg blood group studies were informative and the lod scores are given, together with those for two previously reported families with Norrie's disease.

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