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Article

Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1.

Journal of neuropathology and experimental neurology - 1 Jun 2008

Deguchi Kimiko, Clewing Johanna M, Elizondo Leah I, Hirano Ryuki, Huang Cheng, Choi Kunho, Sloan Emily A, Lücke Thomas, Marwedel Katja M, Powell Ralph D, Santa Cruz Karen, Willaime-Morawek Sandrine, Inoue Ken, Lou Shu, Northrop Jennifer L, Kanemura Yonehiro, van der Kooy Derek, Okano Hideyuki, Armstrong Dawna L, Boerkoel Cornelius F

Abstract excerpt

Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), a gene encoding a putative chromatin remodeling protein. Neurolog...

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Source

Identifiers

PMID: 18520775
DOI: 10.1097/NEN.0b013e3181772777

Genes

SMARCAL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18520775-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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