Associated Papers
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.
Stephenson KAJ et al.
International Journal of Molecular Sciences, 2022
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.
Masih S et al.
American Journal of Medical Genetics. Part A, 2021
PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature.
Nanetti L et al.
Journal of Clinical Neurology (seoul, Korea), 2015
Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.
Ro M et al.
Journal of Child Neurology, 2012
Identification of PEX7 as the second gene involved in Refsum disease.
van den Brink DM et al.
American Journal of Human Genetics, 2003
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