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
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
A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).
Santangelo L et al.
Bmc Nephrology, 2014
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