PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature
1 Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Fondazione Istituto Neurologico Carlo Besta, Milano, Italy.
2 Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Fondazione Istituto Neurologico Carlo Besta, Milano, Italy. mariotti.c@istituto-besta.it.