Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.
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DOI: 10.1080/13816810.2022.2068038
Abstract: BACKGROUND In contrast to the classic autosomal recessive Wolfram syndrome, Wolfram-like syndrome (WLS) is an autosomal dominant disease caused by heterozygous variants in the WFS1 gene. Here, we present deep phenotyping of a mother and… read more here.
Keywords: wolfram; wfs1 variant; wolfram syndrome; novel missense ... See more keywords