A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?
ConclusionThe presented patient is the second with a pathogenicMBD5 mutation in whom the course of disease is suggestive of early onset dementia starting in her fifth decade. These findings stress the importance of exome sequencing, also in elderly intellectually disabled patients, particularly in those with autism.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Willem Verhoeven,
Jos Egger,
Janneke Kipp,
Jiska Verheul ‐ aan de Wiel,
Charlotte Ockeloen,
Tjitske Kleefstra,
Rolph Pfundt Tags: ORIGINAL ARTICLE Source Type: research
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