Article Text
Statistics from Altmetric.com
Footnotes
Contributors EG designed the experimental plan, performed experiments, analysed data, and drafted and revised the paper. GV, PB, DD, CME and MTG contributed to the clinical definition to the clinical, neuroradiological and ophthalmological definition of the patient phenotype. NLB, CD, CM, SC, EDG, EP, MF and AB contributed to the experimental work and/or performed data analysis and interpretation. All authors revised the paper.
Funding This work was supported by MURST60% and Associazione ‘EE Rulfo per la Genetica Medica’ (to AB).
Competing interests None declared.
Patient consent Obtained.
Ethics approval Internal Review Board Committee of the Department of Medical Sciences (University of Torino).
Provenance and peer review Not commissioned; externally peer reviewed.