Article
Null mutations of NEUROG3 are associated with delayed-onset diabetes mellitus.
JCI insight - 16 Jan 2020
Solorzano-Vargas R Sergio, Bjerknes Matthew, Wang Jiafang, Wu S Vincent, Garcia-Careaga Manuel G, Pitukcheewanont Pisit, Cheng Hazel, German Michael S, Georgia Senta, Martín Martín G
Abstract excerpt
Biallelic mutations of the gene encoding the transcription factor NEUROG3 are associated with a rare disorder that presents in neonates as generalized malabsorption - due to a complete absence of enteroendocrine cells - followed, in early childhood or beyond, by insulin-dependent diabetes mellitus (IDDM). The commonly delayed onset of IDDM suggests a differential requirement for NEUROG3 in endocrine cell...
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