First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene.

Abstract excerpt

Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by early onset diabetes mellitus and progressive optic atrophy in the first decade of life. Other clinical features such as diabetes insipidus, deafness, renal tract abnormalities or psychiatric illnesses are often present. The sequence of the Wolfram syndrome gene (WFS1) was described in 1998, and mutations in the gene have...

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