Article
A case report of maturity-onset diabetes of the young (MODY12) in a Chinese Han patient with a novel ABCC8 gene mutation.
Medicine - 9 Dec 2022
Wang Yuan, Kang Chao, Tong Qiang, Wang Hui, Zhang Rui, Qiao Qiao, Sang Qian, Wang Xiaocui, Wang Jian, Xu Jing
Abstract excerpt
RATIONALE: Maturity onset diabetes of the young (MODY) is the most common type of monogenic diabetes, characterized by autosomal dominant inheritance, the age of onset is often <25 years old, and the clinical manifestations are atypical. MODY12 is caused by a rare missense mutation of adenosine triphosphate (ATP)-binding cassette transporter subfamily C member 8 (ABCC8) gene and more than 50 ABCC8 variants were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.