Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS

Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer syndrome characterized by the development of numerous basal cell cancers and various other developmental abnormalities, including epidermal cysts of the skin, calcified dural folds, keratocysts of the jaw, palmar and plantar pits, ov...

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Detalles Bibliográficos
Autores principales: Pál, Margit, Vetró, Éva, Nagy, Nikoletta, Nagy, Dóra, Horváth, Emese, Bokor, Barbara Anna, Varga, Anita, Seres, László, Oláh, Judit, Piffkó, József, Széll, Márta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378406/
https://www.ncbi.nlm.nih.gov/pubmed/37504252
http://dx.doi.org/10.3390/cimb45070336

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378406/
https://www.ncbi.nlm.nih.gov/pubmed/37504252
http://dx.doi.org/10.3390/cimb45070336

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