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Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant manner and is characterized by a combination of developmental abnormalities and a predisposition to tumor formation. Hedgehog receptor Patched 1 (PTCH1) has been identified as the mutat...
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| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7674431/ https://ncbi.nlm.nih.gov/pubmed/33298892 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00126-6 |
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