Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy
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DOI: 10.1002/jcla.24253
Abstract: Infantile neuroaxonal dystrophy is an autosomal recessive neurological disorder. Individuals with infantile neuroaxonal dystrophy experience progressive loss of vision, mental skills and muscular control, and other variable clinical signs. Pathogenic variants in the PLA2G6 gene,… read more here.
Keywords: neuroaxonal dystrophy; pla2g6 gene; family infantile; infantile neuroaxonal ... See more keywords