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- Title
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.
- Authors
Nicolino, Marc; Claiborn, Kathryn C; Senée, Valérie; Boland, Anne; Stoffers, Doris A; Julier, Cécile
- Abstract
Genes responsible for monogenic forms of diabetes have proven very valuable for understanding key mechanisms involved in beta-cell development and function. Genetic study of selected families is a powerful strategy to identify such genes. We studied a consanguineous family with two first cousins affected by neonatal diabetes; their four parents had a common ancestor, suggestive of a fully penetrant recessive mutation.
- Publication
Diabetes, 2010, Vol 59, Issue 3, p733
- ISSN
1939-327X
- Publication type
Journal Article
- DOI
10.2337/db09-1284