AKBAROGHLI, Susan; KOOSHAVAR, Daniz; GOLCHEHRE, Zahra; KARAMZADE, Arezou; SABERI, Mohammad; ALAEI, Mohammad Reza; ABBASI SADEGH, Masoud; ASADOLLAHI, Mostafa; KERAMATIPOUR, Mohammad. Next generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families: two novel pathogenic variants in BBS9 gene. Iranian Journal of Child Neurology, [S. l.], v. 16, n. 1, p. 123–133, 2022. DOI: 10.22037/ijcn.v16i1.31650. Disponível em: https://journals.sbmu.ac.ir/ijcn/article/view/31650. Acesso em: 8 jul. 2026.