EEFSEC Deficiency Underlies a Human Selenopathy with Primary Neurodevelopmental Origins via Midbrain-Hindbrain Hypoplasia
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Biallelic mutations in EEFSEC, a key factor in selenoprotein synthesis, cause a severe human selenopathy characterized by developmental delay, spasticity, and profound cerebellar atrophy. While previous studies in invertebrate models framed this condition as a... ...
