Schimke immuno‐osseous dysplasia: Case report and review
Abstract
We report on a patient with Schimke immunoosseous dysplasia, an autosomal recessive disorder, and review nine patients from the literature. Manifestations include spondyloepiphyseal dysplasia, lymphopenia, signs of defective cellular immunity, and progressive renal disease. This is the first patient known to have the additional findings of thrombocytopenia and...
Paper Details
Title
Schimke immuno‐osseous dysplasia: Case report and review
Published Date
Oct 1, 1993
Volume
47
Issue
5
Pages
793 - 796
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