Articles with "wfs1 variants" as a keyword



Photo by regdoesstuff from unsplash

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants

Sign Up to like & get
recommendations!
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… read more here.

Keywords: complex clinical; manifestations new; rna sequencing; wfs1 variants ... See more keywords