De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

Genetics in Medicine, Published online: 28 November 2019; doi:10.1038/s41436-019-0703-yDe novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

Source: Genetics in Medicine - November 27, 2019 Category: Genetics & Stem Cells Authors: Maria J. Nabais S á Hanka Venselaar Laurens Wiel Aur élien Trimouille Eulalie Lasseaux Sophie Naudion Didier Lacombe Am élie Piton Catherine Vincent-Delorme Christiane Zweier Andr é Reis Regina Trollmann Anna Ruiz Elisabeth Gabau Annalisa Vetro Renzo Source Type: research