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Article

Schimke immuno-osseous dysplasia: case report and review of 25 patients.

Journal of medical genetics - 1 Oct 1999

Saraiva J M, Dinis A, Resende C, Faria E, Gomes C, Correia A J, Gil J, da Fonseca N

Abstract excerpt

Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the...

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Identifiers

PMID: 10528861
DOI: 10.1136/jmg.36.10.786
PMCID: PMC1734237

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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