A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia.
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DOI: 10.1055/s-0038-1636997
Abstract: We present a patient with failure to thrive and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed as Shwachman-Diamond syndrome (SDS), which was genetically confirmed. SDS is a multisystemic… read more here.
Keywords: diamond syndrome; case shwachman; syndrome presented; shwachman diamond ... See more keywords