Ontology highlight
ABSTRACT:
SUBMITTER: Bourinaris T
PROVIDER: S-EPMC7784862 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20200915 12
Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000 Genomes Project (100KGP) is a large UK-wide initiative to provide genetic diagnosis to previously undiagnosed patients and families with rare conditions. Over 400 HSP families were recruited to the 100KGP. In order to obtain genetic diagnoses, gene-based burden testing was carried out ...[more]