The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome
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J. Arenas | A. Delmiro | F. Martínez-Azorín | G. Barcia | M. García-Silva | M. Martin | E. Martín‐Hernández | M. Rodríguez-García | A. Blázquez | P. Quijada-Fraile | P. Tejada‐Palacios | C. Santos | R. Francisco-Álvarez
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