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Article

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

Frontiers in endocrinology - 1 Jan 2023

Ding Yu, Li Zhe, Zhang Qianwen, Li Niu, Chang Guoying, Wang Yirou, Li Xin, Li Juan, Li Qun, Yao Ru-En, Li Xin, Wang Xiumin

Abstract excerpt

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 for accurate diagnosis and genetic counselling. Methods: Three probands and one elder brother from three families were systematically...

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PMID: 36967753
DOI: 10.3389/fendo.2023.1066320
PMCID: PMC10031778

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