Article
A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia.
Diabetic medicine : a journal of the British Diabetic Association - 1 May 2005
Nishi M, Sasahara M, Shono T, Saika S, Yamamoto Y, Ohkawa K, Furuta H, Nakao T, Sasaki H, Nanjo K
Abstract excerpt
BACKGROUND: Paired box gene 6 (PAX6) is a transcription factor involved in eye development. Mutations of PAX6 cause congenital eye anomalies, such as aniridia. PAX6 is also involved in the development of the endocrine pancreas, and reported to be a genetic factor common to aniridia and glucose intolerance, although the latter is usually mild. Here, we describe a case of PAX6 mutation with early-onset diabetes...
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