Article
[Shwachman-Diamond syndrome].
Terapevticheskii arkhiv - 1 Jan 2014
Vinokurova L V, Dubtsova E A, Yashina N I, Shulyatyev I S, Osipenko Yu V
Abstract excerpt
Shwachman-Diamond syndrome is an inherited autosomal recessive disease that appears as exocrine pancreatic insufficiency, neutropenia, impaired neutrophil chemotaxis, aplastic anemia, thrombocytopenia, metaphyseal dysplasia, and physical retardation. Its worldwide prevalence is 1:10,000 to 1:20,000 live births depending on the region. The SBDS gene and a few mutations, which lead to this syndrome, have been found...
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