Article
Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association?
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Nov 2011
Gana S, Sainati L, Frau M R, Monciotti C, Poli F, Cannioto Z, Comelli M, Danesino C, Minelli A
Abstract excerpt
Shwachman-Diamond syndrome is a rare clinical condition consisting of exocrine pancreatic dysfunction, various degree of pancytopenia, and metaphyseal dysplasia. The majority of Shwachman-Diamond syndrome cases result from mutations in the Shwachman-Bodian-Diamond Syndrome gene. To date, type 1 diabetes mellitus has only been reported in 4 independent cases presenting with Shwachman-Diamond syndrome, 3 of them...
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