A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing
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چکیده
منابع مشابه
A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report
BACKGROUND Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in approximately 50% of patients diagnosed with SIOD. CASE PRESENTATION The case presented here is that of a 6-year-old boy who was born at 33 weeks to healthy, non-consanguine...
متن کاملNovel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.
BACKGROUND Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive pleiotropic disease caused by mutations in the SMARCAL1 gene. To date there have been no data from the Chinese population. Here, we report the first SIOD case in the Chinese population. No case with gross carpal bone age retardation has been reported previously. METHODS The index patient was diagnosed by clinical...
متن کاملA novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)
BACKGROUND Schimke immuno-osseous dysplasia (SIOD, OMIM #242900) is an autosomal-recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. SIOD is caused by mutations in the gene SMARCAL1. CASE PRESENTATION We report the clinical and genetic diagnosis of a 5-years old girl with SIOD, referred to our Center because of nephrotic...
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ژورنال
عنوان ژورنال: Journal of International Medical Research
سال: 2021
ISSN: 0300-0605,1473-2300
DOI: 10.1177/03000605211010644