{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["169(7)"],"submitter":["Hunter KB"],"pubmed_abstract":["Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially li"],"journal":["European journal of pediatrics"],"pagination":["801-11"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2876264"],"repository":["biostudies-literature"],"pubmed_title":["Schimke immunoosseous dysplasia: defining skeletal features."],"pmcid":["PMC2876264"],"pubmed_authors":["Goodman D","Helmke K","Schmidt B","Boerkoel CF","Andre JL","Cairns R","Lucke T","Pontz BF","Fryssira H","Frund S","Stajic N","Hinkelmann B","Lamfers P","Bonneau D","Shoemaker L","Hunter KB","Smithson SF","Asakura Y","Mayfield C","Lama G","Loirat C","Spranger J","Cransberg K","Saraiva JM","Taha D","Majore S","Rusu C","Alpay H","Bogdanovic R","Sigaudy S"],"additional_accession":[]},"is_claimable":false,"name":"Schimke immunoosseous dysplasia: defining skeletal features.","description":"Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially li","dates":{"release":"2010-01-01T00:00:00Z","publication":"2010 Jul","modification":"2026-05-04T03:02:17.192Z","creation":"2026-04-07T20:06:19.396Z"},"accession":"S-EPMC2876264","cross_references":{"pubmed":["20013129"],"doi":["10.1007/s00431-009-1115-9"]}}