An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration
Source: Orphanet Journal of Rare Diseases
Infantile Neuroaxonal Dystrophy: Case Report and Review of Literature
Source: Medicina (Lithuania)
Audiological Findings in Children with PLA2G6-Associated Neurodegeneration
Source: Journal of the American Academy of Audiology
Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
Source: Journal of Assisted Reproduction and Genetics
A rare inherited homozygous missense variant in PLA2G6 influences susceptibility to infantile neuroaxonal dystrophy: a case report
Source: Translational Pediatrics
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