Literature DB >> 10607947

Infantile refsum disease in four Amish sibs.

P I Bader1, S Dougherty, N Cangany, G Raymond, C E Jackson.   

Abstract

Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females. Copyright 2000 Wiley-Liss, Inc.

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Year:  2000        PMID： 10607947

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


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  8 in total

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