Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

Roberta Biancheri, Camillo Rosano, Laura Denegri, Eleonora Lamantea, Francesca Pinto, Federica Lanza, Mariasavina Severino, Mirella Filocamo

European Journal of Human Genetics · 2012 · 38 citations · 24 references

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