Intellectual disability and microcephaly associated with a novel CHAMP1 mutation
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DOI: 10.1038/s41439-021-00165-7
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… read more here.
Keywords: microcephaly; intellectual disability; champ1 mutation; disability microcephaly ... See more keywords