Associated Papers
Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings
Alavanda C et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
Elizondo LI et al.
Journal of Medical Genetics, 2009
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Boerkoel CF et al.
Nature Genetics, 2002
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