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Letter
Nature Genetics 36, 1301–1305 (1 December 2004) | doi:10.1038/ng1475
Mutations in PTF1A cause pancreatic and cerebellar agenesis
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Abstract
Individuals with permanent neonatal diabetes mellitus usually present within the first three months of life and require insulin treatment. We recently identified a locus on chromosome 10p13–p12.1 involved in permanent neonatal diabetes mellitus associated with pancreatic and cerebellar agenesis in a genome-wide linkage search of a consanguineous Pakistani family.
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