A case of Shwachman-Diamond syndrome presenting with diabetes from early infancy.
نویسندگان
چکیده
S hwachman-Diamond syndrome (SDS; OMIM 260400) is a rare autosomal recessive disorder characterized by pancreatic insufficiency, bone marrow failure, skeletal dysplasia, and short stature (1). Diabetes is a rare complication of SDS, and only a few SDS patients have been reported to develop diabetes (2–6). We report the first case of SDS with diabetes in which mutations of the SBDS gene have been identified.
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ورودعنوان ژورنال:
- Diabetes care
دوره 28 6 شماره
صفحات -
تاریخ انتشار 2005