[1] Univ Coimbra, Fac Med, Coimbra, Portugal
[2] Ctr Hosp Univ Coimbra CHUC, Hosp Pediatr, Med Genet Unit, Coimbra, Portugal
[3] Univ Coimbra, Univ Clin Genet, Fac Med, Coimbra, Portugal
[4] Clin Acad Ctr Coimbra CACC, Coimbra, Portugal
[5] BIOCANT Biotechnol Innovat Ctr, Next Gen Sequencing Unit, Cantanhede, Portugal
[6] Univ Coimbra, Ctr Neurosci & Cell Biol, Coimbra, Portugal
[7] Ctr Hosp Univ Coimbra CHUC, Dept Ophthalmol, Coimbra, Portugal
[8] Univ Coimbra, Univ Clin Pediat, Fac Med, Coimbra, Portugal