Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Author(s):
Dijk, T. van; Ferdinandusse, S.; Ruiter, J.P.N.; Alders, M.; Mathijssen, I.B.; Parboosingh, J.S.; Innes, A.M.; Meijers-Heijboer, H.; Poll-The, B.T.; Bernier, F.P.; Wanders, R.J.A.; Lamont, R.E.; Baas, F.
Published
2018
Publication type
Article / Letter to editor
Date issued
2018-12-31
Language
English
Is part of
European Journal of Human Genetics (2018), Vol. 26, no. 12, p. 1752-1758
hdl
1887/95891
doi
10.1038/s41431-018-0233-0