Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD
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منابع مشابه
Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient
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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: Frontiers in Genetics
سال: 2019
ISSN: 1664-8021
DOI: 10.3389/fgene.2019.00565