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Article

Schimke versus non-Schimke chronic kidney disease: an anthropometric approach.

Pediatrics - 1 Aug 2006

Lücke Thomas, Franke Doris, Clewing J Marietta, Boerkoel Cornelius F, Ehrich Jochen H H, Das Anibh M, Zivicnjak Miroslav

Abstract excerpt

Schimke-immuno-osseous dysplasia is a rare autosomal-recessive multisystem disorder with the main clinical features of disproportionate growth deficiency, defective cellular immunity, and progressive renal disease. It is caused by mutations of SMARCAL1, a gene encoding a putative chromatin remodeling protein of unknown function. Because a detailed description of the clinical features is an essential first step in...

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Source

Identifiers

PMID: 16816006
DOI: 10.1542/peds.2005-2614

Genes

SMARCAL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Schimke versus non-Schimke chronic kidney disease: an anthropometric approach.PMID 16816006Read ↗

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