A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
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S. Papa | N. Ticozzi | F. Verde | V. Silani | L. Maderna | C. Colombrita | M. Bonati | P. Banfi | C. Castronovo | U. Hladnik | Paola Cattelan | Luca Campana