Lopes, Fátima
Torres, Fátima
Soares, Gabriela
Barbosa, Mafalda
Silva, João
Duque, Frederico
Rocha, Miguel
Sá, Joaquim
Oliveira, Guiomar
Sá, Maria João
Temudo, Teresa
Sousa, Susana
Marques, Carla
Lopes, Sofia
Gomes, Catarina
Barros, Gisela
Jorge, Arminda
Rocha, Felisbela
Martins, Cecília
Mesquita, Sandra
Loureiro, Susana
Cardoso, Elisa Maria
Cálix, Maria José
Dias, Andreia
Martins, Cristina
Mota, Céu R.
Antunes, Diana
Dupont, Juliette
Figueiredo, Sara
Figueiroa, Sónia
Gama-de-Sousa, Susana
Cruz, Sara
Sampaio, Adriana
Eijk, Paul
Weiss, Marjan M.
Ylstra, Bauke
Rendeiro, Paula
Tavares, Purificação
Reis-Lima, Margarida
Pinto-Basto, Jorge
Fortuna, Ana Maria
Maciel, Patrícia https://orcid.org/0000-0002-0920-6350
Funding for this research was provided by:
FEDER Competitiveness Factors Operational Programme (PIC/IC/83026/2007, PIC/IC/83013/2007)
FEDER Competitiveness Factors Operational Programme (POCI-01-0145-FEDER-007038)
Northern Portugal Regional Operational Programme (NORTE-01-0145-FEDER-000013)
Foundation for Science and Technology (SFRH/BD/90167/2012)
Article History
Received: 16 January 2019
Accepted: 12 June 2019
First Online: 5 July 2019
Ethics approval and consent to participate
: The enrollment of the patients and families was done by the referring doctor, clinical information was gathered in an anonymized database and written informed consent was obtained for all participants and/or their legal guardians for both study participation and publication of identifying information/images according to the Portuguese Data Protection Authority (CNPD). This study was approved by the ethics committee of Center for Medical Genetics Dr. Jacinto Magalhães, Porto Hospital Center and all research was performed in accordance with relevant guidelines/regulations.
: Informed consent was obtained for all participants and/or their legal guardians for publication of identifying information/images according to the Portuguese Data Protection Authority (CNPD).
: FT, PR, PT and JPB authors are employed by company CGC Genetics. All other authors declare no competing interests.