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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… Click to show full 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.
Keywords:
microcephaly;
intellectual disability;
champ1 mutation;
disability microcephaly;
mutation
Journal Title: Human Genome Variation
Year Published: 2021
Link to full text (if available)
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Journal Title: Human Genome Variation
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!