PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature.
10.3988/jcn.2015.11.2.197
- Author:
Lorenzo NANETTI
1
;
Viviana PENSATO
;
Valerio LEONI
;
Manuela RIZZETTO
;
Claudio CACCIA
;
Franco TARONI
;
Caterina MARIOTTI
;
Cinzia GELLERA
Author Information
1. Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Fondazione Istituto Neurologico Carlo Besta, Milano, Italy. mariotti.c@istituto-besta.it
- Publication Type:Letter
- MeSH:
Ataxia*;
Cataract*;
Humans;
Siblings*
- From:Journal of Clinical Neurology
2015;11(2):197-199
- CountryRepublic of Korea
- Language:English
-
Abstract:
No abstract available.
