AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature,Molecular Genetics & Genomic Medicine

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AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2023-03-01 , DOI: 10.1002/mgg3.2157
Laura Roht _{1,

2} , Hanne K Hyldebrandt ₃ , Astrid T Stormorken ₃ , Hilde Nordgarden ₄ , Rolf H Sijmons ₅ , Dennis K Bos ₅ , Douglas Riegert-Johnson ₆ , Sarah Mantia-Macklin ₆ , Pilvi Ilves ₇ , Kai Muru _{1,

2} , Monica H Wojcik _{8,

9} , Tiina Kahre _{1,

2} , Katrin Õunap _{1,

2}

Affiliation

Pathogenic variants in AXIN2 have been associated with tooth agenesis, colon polyps, and colon cancer. Given the rare nature of this phenotype, we set out to collect additional genotypic and phenotypic information.

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