Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference34 articles.
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1. 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
2. Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals;European Urology Oncology;2020-12
3. Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature;Journal of Child Neurology;2020-10-14
4. A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family;Journal of Cellular and Molecular Medicine;2020-05-25
5. A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey;Türk Pediatri Arşivi;2017-11-30
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