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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
- All authors
- Sa, M.N.J.; Venselaar, H.; Wiel, L.; Trimouille, A.; Lasseaux, E.; Naudion, S.; Lacombe, D.; Piton, A.; Vincent-Delorme, C.; Zweier, C.; Reis, A.; Trollmann, R.; Ruiz, A.; Gabau, E.; Vetro, A.; Guerrini, R.; Bakhtiari, S.; Kruer, M.C.; Amor, D.J.; Cooper, M.S.; Bijlsma, E.K.; Barakat, T.S.; Dooren, M.F. van; Slegtenhorst, M. van; Pfundt, R.; Gilissen, C.; Willemsen, M.A.; Vries, B.B.A. de; Brouwer, A.P.M. de; Koolen, D.A.
- Date
- 2020-04-01
- Journal
- Genetics in Medicine
- Volume
- 22
- Issue
- 4
- Pages
- 797 - 802