Persistent URL of this record https://hdl.handle.net/1887/95891
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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
- All authors
- 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.
- Date
- 2018-12-31
- Volume
- 26
- Issue
- 12
- Pages
- 1752 - 1758