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Article

A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).

BMC nephrology - 3 Mar 2014

Santangelo Luisa, Gigante Maddalena, Netti Giuseppe Stefano, Diella Sterpeta, Puteo Flora, Carbone Vincenza, Grandaliano Giuseppe, Giordano Mario, Gesualdo Loreto

Abstract excerpt

BACKGROUND: Schimke immuno-osseous dysplasia (SIOD, OMIM #242900) is an autosomal-recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. SIOD is caused by mutations in the gene SMARCAL1. CASE PRESENTATION: We report the clinical and genetic diagnosis of a 5-years old girl with SIOD, referred to our Center because of nephrotic-range proteinuria...

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Source

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Identifiers

PMID: 24589093
DOI: 10.1186/1471-2369-15-41
PMCID: PMC3973878

Genes

SMARCAL1
ACE

Variants

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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A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).PMID 24589093Read ↗

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