Associated Papers
A novel frameshift DDHD1 mutation in a patient with hereditary spastic paraplegia type 28: Case report and review of the literature.
Pinheiro RG et al.
Parkinsonism & Related Disorders, 2024
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.
Dard R et al.
European Journal of Medical Genetics, 2017
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