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Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.987
Abstract: Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, skeletal anomalies, macrocephaly,…
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Keywords:
phenotype;
ptch1;
unexpected phenotype;
mutation ptch1 ... See more keywords