Autosomal‐dominant WFS1‐related Disorder—report of a Novel WFS1 Variant and Review of the Phenotypic Spectrum of Autosomal Recessive and Dominant Forms

American Journal of Medical Genetics Part A(2020)

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关键词
cataracts,early onset diabetes,hearing loss,WFS1 variants,WFS1&#8208,related disorders,Wolfram syndrome
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