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
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38
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DOI: 10.3390/genes14020457
Abstract: The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients identified with this variant. Therefore, we describe the genotype… read more here.
Keywords: variant; wfs1 variant; genotype phenotype; novel wfs1 ... See more keywords