Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.
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DOI: 10.1016/j.ejmg.2017.08.015
Abstract: Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies, and osteo-cutaneous manifestations. DDHD1 encodes a phospholipase A1, which is… read more here.
Keywords: mutations ddhd1; neurodegeneration brain; phospholipase; brain iron ... See more keywords