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Published in 2023 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2023.1066320
Abstract: Background WFS1-related disorders involve a wide range of clinical phenotypes, including diabetes mellitus and neurodegeneration. Inheritance patterns of pathogenic variants of this gene can be autosomal recessive or dominant, and differences in penetrance present challenges…
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Keywords:
complex clinical;
manifestations new;
rna sequencing;
wfs1 variants ... See more keywords