J. Dieguez-Lucena

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

Len A. Pennacchio, Ralf Krahe, Silvana Franceschetti, 1997, Nature Genetics.

Mutations in KERA, encoding keratocan, cause cornea plana

A. Chapelle, R. Kucherlapati, K. Montgomery, 2000, Nature Genetics.

Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature.

J. Dieguez-Lucena, E. Tahvanainen, A. Sigler-Villanueva, 1997, Ophthalmic genetics.