Schimke-immuno-osseous dysplasia: New mutation with weak genotype-phenotype correlation in siblings
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference16 articles.
1. Schimke immunoosseous dysplasia complicated by moyamoya phenomenon
2. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
3. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
4. Advances in chromatin remodeling and human disease
5. Cloning and Characterization of HARP/SMARCAL1: A Prokaryotic HepA-Related SNF2 Helicase Protein from Human and Mouse
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1. Loss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia;Pathology - Research and Practice;2024-02
2. Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic;Italian Journal of Pediatrics;2023-01-19
3. A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing;Journal of International Medical Research;2021-04
4. Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells;International Journal of Molecular Sciences;2020-11-15
5. Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD;Frontiers in Genetics;2019-06-18
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