Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient
Author:
Affiliation:
1. Department of Pediatric Neurology Shengjing Hospital of China Medical University Shenyang P.R. China
2. Chigene (Beijing) Translational Medical Research Center Co., Ltd. Beijing P.R. China
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1779
Reference21 articles.
1. Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III
2. Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey
3. A new genetic concept: Uniparental disomy and its potential effect, isodisomy
4. Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses
5. Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa
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1. Functional Characterization of a Novel SLC4A4 Variant and Uniparental Isodisomy in Proximal Renal Tubular Acidosis Patient;Biochemical Genetics;2023-11-11
2. Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1;Frontiers in Genetics;2022-08-16
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