Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

doi:10.1038/ng821

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Article

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Nature genetics - 1 Feb 2002

Boerkoel Cornelius F, Takashima Hiroshi, John Joy, Yan Jiong, Stankiewicz Pawel, Rosenbarker Lisa, André Jean-Luc, Bogdanovic Radovan, Burguet Antoine, Cockfield Sandra, Cordeiro Isabel, Fründ Stefan, Illies Friederike, Joseph Mark, Kaitila Ilkka, Lama Giuliana, Loirat Chantal, McLeod D Ross, Milford David V, Petty Elizabeth M, Rodrigo Francisco, Saraiva Jorge M, Schmidt Beate, Smith Graham C, Spranger Jürgen, Stein Anja, Thiele Hannelore, Tizard Jane, Weksberg Rosanna, Lupski James R, Stockton David W

Abstract excerpt

Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like...

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Identifiers

PMID: 11799392
DOI: 10.1038/ng821

Genes

SMARCAL1

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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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