Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão, Paula Ribeiro, José Leal Loureiro, Jorge Sequeiros, Alexis Brice, Isabel Alonso, Giovanni Stevanin
Eur J Hum Genet. 2017 Nov; 25(11): 1217–1228. Published online 2017 Aug 23. doi: 10.1038/ejhg.2017.124