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

Crossref DOI link: https://doi.org/10.1007/s00431-015-2661-y

Published Online: 2015-11-13

Published Print: 2016-04

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Jackson, C. B. https://orcid.org/0000-0003-1035-6417
Bauer, M. F.

Schaller, A.

Kotzaeridou, U.

Ferrarini, A.

Hahn, D.

Chehade, H.

Barbey, F.

Tran, C.

Gallati, S.

Haeberli, A.

Eggimann, S.

Bonafé, L.

Nuoffer, J-M.
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