Tomanin R et al.
Human Mutation, 2018
Filocamo M et al.
Italian Journal of Pediatrics, 2018
Lacombe D et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014
Valayannopoulos V et al.
Orphanet Journal of Rare Diseases, 2010