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- Title
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation.
- Authors
Asakura, Yuta; Osaka, Hitoshi; Aoi, Hiromi; Mizuguchi, Takeshi; Matsumoto, Naomichi; Yamagata, Takanori
- Abstract
Mutations in a number of genes related to chromosomal segregation reportedly cause developmental disorders, e.g., chromosome alignment-maintaining phosphoprotein 1 (CHAMP1). We report on an 8-year-old Japanese girl who presented with a developmental disorder and microcephaly and carries a novel nonsense mutation in CHAMP1. Therefore, CHAMP1 mutation should be considered as a differential diagnosis of global developmental delay and microcephaly.
- Subjects
INTELLECTUAL disabilities; MICROCEPHALY; PHOSPHOPROTEINS; NONSENSE mutation; NEURAL development
- Publication
Human Genome Variation, 2021, Vol 8, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-021-00165-7