2015 (v1)
Publication
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Uploaded on: May 13, 2023
M
B
Last name: MAHER
First name: Bridget
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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...