Ontology highlight
ABSTRACT:
SUBMITTER: Hunter KB
PROVIDER: S-EPMC2876264 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
Hunter Kshamta B KB Lücke Thomas T Spranger Jürgen J Smithson Sarah F SF Alpay Harika H André Jean-Luc JL Asakura Yumi Y Bogdanovic Radovan R Bonneau Dominique D Cairns Robyn R Cransberg Karlien K Fründ Stefan S Fryssira Helen H Goodman David D Helmke Knut K Hinkelmann Barbara B Lama Guiliana G Lamfers Petra P Loirat Chantal C Majore Silvia S Mayfield Christy C Pontz Bertram F BF Rusu Cristina C Saraiva Jorge M JM Schmidt Beate B Shoemaker Lawrence L Sigaudy Sabine S Stajic Natasa N Taha Doris D Boerkoel Cornelius F CF
European journal of pediatrics 20091215 7
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 th ...[more]