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Article

Bone marrow transplantation in Schimke immuno-osseous dysplasia.

American journal of medical genetics. Part A - 1 Oct 2013

Baradaran-Heravi Alireza, Lange Jonas, Asakura Yumi, Cochat Pierre, Massella Laura, Boerkoel Cornelius F

Abstract excerpt

Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by short stature, renal failure, T-cell immunodeficiency, and hypersensitivity to genotoxic agents. SIOD is associated with biallelic mutations in SMARCAL1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1), which encodes a DNA stress response...

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Source

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Identifiers

PMID: 23950031
DOI: 10.1002/ajmg.a.36111
PMCID: PMC3788057

Genes

SMARCAL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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