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

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 a...

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Détails bibliographiques
Auteurs principaux: Santangelo, Luisa, Gigante, Maddalena, Netti, Giuseppe Stefano, Diella, Sterpeta, Puteo, Flora, Carbone, Vincenza, Grandaliano, Giuseppe, Giordano, Mario, Gesualdo, Loreto
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3973878/
https://ncbi.nlm.nih.gov/pubmed/24589093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-15-41
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