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Article

Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.

American journal of medical genetics. Part A - 1 Jun 2005

Lücke Thomas, Billing Heiko, Sloan Emily A, Boerkoel Cornelius F, Franke Doris, Zimmering Miriam, Ehrich Jochen H H, Das Anibh M

Abstract excerpt

Schimke-immuno-osseous dysplasia (SIOD) is a multisystem disorder with the following consistent clinical features: spondyloepiphyseal dysplasia with disproportional growth deficiency, nephrotic syndrome with focal and segmental glomerulosclerosis, and defective cellular immunity. Transitory ischemic attacks due to vaso-occlusive processes are complications in some patients with severe SIOD. Recently, mutations of...

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Source

Identifiers

PMID: 15880370
DOI: 10.1002/ajmg.a.30691

Genes

SMARCAL1

Provenance

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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Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.PMID 15880370Read ↗

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Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype.Semantic proximity Read ↗

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