| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 4143867 | Anales de Pediatría | 2006 | 4 Pages |
Abstract
Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. We describe the clinical characteristics, laboratory data, and treatment in a 14-month-old boy diagnosed with this syndrome in our unit.
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Authors
R.M.ª Macipe Costa, E. Javierre Miranda, M.ªG. Lou Francés, S. Heredia González, M.ªT. Calvo MartÃn,