Cargando…
PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study
The patched (PTCH) mutation rate in nevoid basal cell carcinoma syndrome (NBCCS) reported in various studies ranges from 40 to 80%. However, few studies have investigated the role of PTCH in clinical conditions suggesting an inherited predisposition to basal cell carcinoma (BCC), although it has bee...
Autores principales: | Soufir, N, Gerard, B, Portela, M, Brice, A, Liboutet, M, Saiag, P, Descamps, V, Kerob, D, Wolkenstein, P, Gorin, I, Lebbe, C, Dupin, N, Crickx, B, Basset-Seguin, N, Grandchamp, B |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2006
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2360669/ https://www.ncbi.nlm.nih.gov/pubmed/16909134 http://dx.doi.org/10.1038/sj.bjc.6603303 |
Ejemplares similares
-
Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome
por: Nakase, Yoji, et al.
Publicado: (2020) -
A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
por: Altaraihi, M., et al.
Publicado: (2019) -
Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma
por: Soufir, N, et al.
Publicado: (2004) -
Novel PTCH1 Mutations in Patients with Keratocystic Odontogenic Tumors Screened for Nevoid Basal Cell Carcinoma (NBCC) Syndrome
por: Pastorino, Lorenza, et al.
Publicado: (2012) -
Frameshift mutation in exon 17 of PTCH1 gene in Nevoid basal cell carcinoma syndrome: A case report
por: Aravind, Thara, et al.
Publicado: (2023)