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Article

[Schimke immuno-osseous dysplasia. A pediatric disease reaches adulthood].

Medizinische Klinik (Munich, Germany : 1983) - 15 Mar 2006

Lücke Thomas, Kanzelmeyer Nele, Franke Doris, Hartmann Hans, Ehrich Jochen H H, Das Anibh M

Abstract excerpt

BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystemic disorder caused by mutations of the SMARCAL 1 gene (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). CLINICAL FEATURES: Main clinical features are: disproportional growth deficiency due to spondyloepiphyseal dysplasia, nephrotic syndrome with focal and segmental...

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Identifiers

PMID: 16648978
DOI: 10.1007/s00063-006-1026-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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