A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. - Jackson, C.; Bauer, M.; Schaller, A.; Kotzaeridou, U.; Ferrarini, A.; Hahn, D.; Chehade, H.; Barbey, F.; Tran, C.; Gallati, S.; Haeberli, A.; Eggimann, S.; et al. (European Journal of Pediatrics, 2016)