A novel compound heterozygous mutation of C20orf54 gene associated with Brown–Vialetto–Van Laere syndrome in an Italian family

Abstract

A novel compound heterozygous mutation of <scp><i>C20orf54</i></scp> gene associated with <scp>B</scp>rown–<scp>V</scp>ialetto–<scp>V</scp>an <scp>L</scp>aere <scp>s</scp>yndrome in an <scp>I</scp>talian family