Associated Papers
Clinical, Radiologic, and Genetic Spectrum of Schimke Immuno-Osseous Dysplasia.
Akbalık Kara M et al.
Balkan Medical Journal, 2025
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics, 2019
A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report.
Liu S et al.
Bmc Pediatrics, 2017
Select a paper to view details