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

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

BackgroundWFS1-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 an...

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Bibliographic Details
Main Authors: Yu Ding, Zhe Li, Qianwen Zhang, Niu Li, Guoying Chang, Yirou Wang, Xin Li, Juan Li, Qun Li, Ru-en Yao, Xiumin Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Endocrinology
Subjects:
diabetes mellitus
RNA-seq
genetic variation
dilated cardiomyopathy
encephalatrophy
paediatrics
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1066320/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2023.1066320/full

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