Associated Papers
A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing.
Wang L et al.
The Journal of International Medical Research, 2021
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics, 2019
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Sanyal M et al.
Clinical Immunology (orlando, Fla.), 2015
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Morimoto M et al.
Orphanet Journal of Rare Diseases, 2012
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia.
Lücke T et al.
Pediatric Transplantation, 2009
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
Zivicnjak M et al.
Pediatric Research, 2009
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