A novel missense variant p.Ser118Arg in EFNB1 causing ocular hypertelorism and cleft lip and palate in a boy and craniofrontonasal syndrome phenotype in his mother - Galvanin, Ana Laura; Kokitsu-Nakata, Nancy Mizue; Vendramini-Pittoli, Siulan; Zechi-Ceide, Roseli Maria (Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas, 2023)