Article
C.487C>T mutation in PAX4 gene causes MODY9: A case report and literature review.
Medicine - 23 Dec 2022
Zhang Di, Chen Congli, Yang Wenli, Piao Yurong, Ren Li, Sang Yanmei
Abstract excerpt
RATIONALE: Maturity-onset diabetes of the young (MODY) is a group of autosomal dominant monogenic diabetes mellitus with a wide range of clinical manifestations that require distinct treatment strategies. MODY9 (OMIM # 612225) is a rare type of MODY, caused by a mutation in the Paired box gene 4 (PAX4). PATIENT CONCERN: A 19-months boy was admitted to the department of endocrinology at Beijing Children's Hospital...
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