Article
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.
American journal of human genetics - 1 Apr 2000
El-Shanti H, Lidral A C, Jarrah N, Druhan L, Ajlouni K
Abstract excerpt
Wolfram syndrome, which is sometimes referred to as "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an autosomal recessive neurodegenerative disorder for which only insulin-dependent diabetes mellitus and optic atrophy are necessary to make the diagnosis. Researchers have mapped Wolfram syndrome to chromosome 4p16.1, and, recently, a gene encoding a putative transmembrane...
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