1 Institute for Biomedical Technologies, National Research Council, Pisa, Italy.
2 Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
3 Institute for Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
4 Essen Center for Rare Diseases (Essener Zentrum für Seltene Erkrankungen, EZSE), University Hospital Essen, Essen, Germany.
5 Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, Zaragoza, Spain.
6 Clinical Genetics Unit, Service of Paediatrics, University Hospital "Lozano Blesa", University of Zaragoza, CIBERER GCV02 and ISS-Aragón, Zaragoza, Spain.
7 Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland, USA.