| Literature DB >> 8267014 |
M D Ludman1, D E Cole, J F Crocker, M M Cohen.
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.Entities:
Mesh：
Year: 1993 PMID： 8267014 DOI： 10.1002/ajmg.1320470538
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299