Schimke immuno‐osseous dysplasia: Case report and review

Publisher Website
Google Scholar
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 microdontia.

This publication has 6 references indexed in Scilit: