Associated Papers
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.
Mah-Som AY et al.
Neurology. Genetics, 2021
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
Matsumoto N et al.
American Journal of Human Genetics, 2003
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