About
Contact & Profiles
A5093482057
Research Areas
- Hedgehog Signaling Pathway Studies
- Cancer and Skin Lesions
- Oral and Maxillofacial Pathology
Hospital de Cruces
2023
Abstract Background Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by variants PTCH1 , SUFU, or PTCH2 genes. It characterized multiple basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and predisposition to neoplasms. Case presentation A novel splice-site variant the gene, c.3549+1G>T classified as pathogenic, was identified patient with phenotype compatible GS (multiple carcinomas malformations). Conclusions This...
10.1186/s43042-023-00463-5
article
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Egyptian Journal of Medical Human Genetics
2023-12-13
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