Article
Functional validation of a non-canonical HNF1B splice-site variant in MODY5.
Frontiers in endocrinology - 1 Jan 2026
Gong Xinran, Zhang Li, Ma Qiaobo, Zhang Yingyu, Hu Keyan, Jiang Hongwei, Peng Huifang
Abstract excerpt
Background: Mutations in the HNF1B gene can cause developmental and functional abnormalities in multiple organs such as the pancreas, kidneys, and liver. The patient is a 19-year-old male with normal growth and development, presenting with a 9-year history of diabetes that remains poorly controlled despite intensive subcutaneous insulin therapy. His clinical features include surgically managed bilateral...
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