Article
Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.
Pediatrics - 1 Sept 2004
Kuijpers Taco W, Nannenberg Eline, Alders Marielle, Bredius Robbert, Hennekam Raoul C M
Abstract excerpt
CLINICAL FINDINGS: Aplastic anemia was diagnosed at birth for a first child from healthy nonconsanguineous parents. The girl had hypoglycemia, which normalized within 2 months. Cow milk allergy was suspected initially, because of skin lesions and diarrhea, followed by severe growth retardation. Clinical and radiologic symptoms gradually became typical for Shwachman-Diamond syndrome. Two common mutations in the...
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