Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

Volume: 36, Issue: 5, Pages: 1086 - 1103
Published: Jan 27, 2021
Abstract
This comprehensive MDSGene review is devoted to 7 genes — TOR1A , THAP1 , GNAL , ANO3 , PRKRA , KMT2B , and HPCA — mutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened a total of ~1200 citations. Phenotypic and genotypic data on ~1200 patients with 254 different mutations were curated and analyzed. There were differences regarding age at onset, site of onset, and distribution of...
Paper Details
Title
Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review
Published Date
Jan 27, 2021
Volume
36
Issue
5
Pages
1086 - 1103
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