About the Authors

Stefano Regis

Affiliation Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy

Fabio Corsolini

Affiliation Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy

Serena Grossi

Affiliation Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy

Barbara Tappino

Affiliation Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy

David N. Cooper

Affiliation Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom

Mirella Filocamo

mirellafilocamo@ospedale-gaslini.ge.it

Affiliation Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: SR. Performed the experiments: SR FC SG BT. Analyzed the data: SR MF DNC. Contributed reagents/materials/analysis tools: SR FC SG BT MF. Wrote the manuscript: SR DNC MF.