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DE LANGE , Iris M

Last name: DE LANGE

First name: Iris M

2016 (v1)

Publication

Metadata-only

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

de Lange, Iris M Helbig, Katherine L. Weckhuysen, Sarah

Background Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. Methods Reported...

Uploaded on: April 14, 2023