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Article

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

Pediatric research - 1 Apr 2008

Dekel Benjamin, Metsuyanim Sally, Goldstein Nurit, Pode-Shakked Naomi, Kovalski Yael, Cohen Yoram, Davidovits Miriam, Anikster Yair

Abstract excerpt

Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder caused by loss-of-function mutations in SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), with clinical features of growth retardation, spondylo-epiphyseal dysplasia, nephrotic syndrome, and immunodeficiency. We report a patient with SIOD and SMARCAL1 splice mutation (IVS4-2 A>G) in...

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Source

Identifiers

PMID: 18356746
DOI: 10.1203/PDR.0b013e31816721cc

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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