1. Department of Genetic and Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain
2. Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide and CIBERER, Sevilla, Spain
3. Clinical Genetics Unit, Department of Pediatrics, University of Padova, Padova, Italy