Beauregard-Lacroix, E, Pacheco-Cuellar, G, Ajeawung, N F, Tardif, J, Dieterich, K, Dabir, T, Vind-Kezunovic, D, White, S M, Zadori, D, Castiglioni, C, Tranebjærg, L, Tørring, P M, Blair, E, Wisniewska, M, Camurri, M V, van Bever, Y, Molidperee, S, Taylor, J, Dionne-Laporte, A, Sisodiya, S M, Hennekam, R C M & Campeau, P M 2021, ' DOORS syndrome and a recurrent truncating ATP6V1B2 variant ', Genetics in Medicine, vol. 23, pp. 149–154 . https://doi.org/10.1038/s41436-020-00950-9 Beauregard-Lacroix, E, Pacheco-Cuellar, G, Ajeawung, N F, Tardif, J, Dieterich, K, Dabir, T, Vind-Kezunovic, D, White, S M, Zadori, D, Castiglioni, C, Tranebjærg, L, Tørring, P M, Blair, E, Wisniewska, M, Camurri, M V, van Bever, Y, Molidperee, S, Taylor, J, Dionne-Laporte, A, Sisodiya, S M, Hennekam, R C M & Campeau, P M 2021, ' DOORS syndrome and a recurrent truncating ATP6V1B2 variant ', Genetics in Medicine, vol. 23, no. 1, pp. 149–154 . https://doi.org/10.1038/s41436-020-00950-9