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Gorlin–Goltz Syndrome: A Case Report and Literature Review with PTCH1 Gene Sequencing
Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 ( PTCH1 ) gene variants and/or SUFU gene variants. The presence of either two main criteria...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Thieme Medical Publishers, Inc.
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411172/ https://www.ncbi.nlm.nih.gov/pubmed/37564720 http://dx.doi.org/10.1055/a-2096-3536 |