Associated Papers
CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature.
Abi Raad S et al.
Genes, 2023
37628598 (PubMed )
Supplement: genes-14-01546-s001.zip › genes-2495462-supplementary.xlsx › Sheet1
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
Garrity M et al.
Cold Spring Harbor Molecular Case Studies, 2021
First Chinese patient with mental retardation-40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review.
Dong Y et al.
Experimental and Therapeutic Medicine, 2021
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.
Tanaka AJ et al.
Cold Spring Harbor Molecular Case Studies, 2016
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Hempel M et al.
American Journal of Human Genetics, 2015
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