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A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.

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Bibliographic Details
Title: A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
Authors: Jackson, C. christopher.jackson@helsinki.fi, Bauer, M.1 bauermat@klilu.de, Schaller, A.2 Andre.Schaller@insel.ch, Kotzaeridou, U.3 Urania.Kotzaeridou@med.uni-heidelberg.de, Ferrarini, A.4 Alessandra.Ferrarini@eoc.ch, Hahn, D.5 Dagmar.Hahn@insel.ch, Chehade, H.6 Hassib.Chehade@chuv.ch, Barbey, F.7 Frederic.Barbey@chuv.ch, Tran, C.7 Christel.Tran@chuv.ch, Gallati, S.2 Sabina.Gallati@insel.ch, Haeberli, A.5 Annemarie.Haeberli@insel.ch, Eggimann, S.5 Sandra.eggimann@insel.ch, Bonafé, L.7 Luisa.Bonafe@chuv.ch, Nuoffer, J-M.5 Jean-Marc.Nuoffer@insel.ch, Jackson, C B8,9 (AUTHOR), Bauer, M F10 (AUTHOR), Bonafé, L11 (AUTHOR)
Source: European Journal of Pediatrics. Apr2016, Vol. 175 Issue 4, p517-525. 9p. 1 Black and White Photograph, 2 Diagrams, 1 Chart.
Database: Academic Search Ultimate
Description
ISSN:03406199
DOI:10.1007/s00431-015-2661-y