A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome
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DOI: 10.1177/08830738211029390
Abstract: Sjögren-Larsson syndrome (SLS) is a rare neurologic disorder caused by pathogenic sequence variants in ALDH3A2 and characterized by ichthyosis, spasticity, intellectual disability, and a crystalline retinopathy. Neurologic symptoms develop in the first 2 years of… read more here.
Keywords: associated gren; neurodegenerative phenotype; larsson syndrome; gren larsson ... See more keywords