Article

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling

2024-12-08

Abstract excerpt

Heterozygous pathogenic variants in AXIN2 are associated with oligodontia-colorectal cancer syndrome (ODCRCS), a disorder characterized by oligodontia, colorectal cancer, and in some cases, sparse hair and eyebrows. We have identified four individuals with one of two de novo , heterozygous variants (NM_004655.4:c.196G>A, p.(Glu66Lys) and c.199G>A, p.(Gly67Arg)) in AXIN2 whose presentations expand the phenotype of...

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Literature Corpus work: 086ef28a-1620-5358-82bb-4507043ae0d6
DOI: 10.1101/2024.12.05.24318524

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