Article

Prospective phenotyping of CHAMP1 disorder indicates that coding mutations do not act through haploinsufficiency

2023-04-24

Abstract excerpt

CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature termination codons. The disorder is associated with intellectual disability, medical comorbidities, and dysmorphic features. Deletions of the CHAMP1 gene, as part of 13q3 deletion syndrome, have been briefly described with the suggestion of a milder clinical phenotype. To date, no studies have...

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Literature Corpus work: 198b99a5-e83b-563f-b5cd-94e56847bb32
DOI: 10.1101/2023.04.17.23288527

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