Whole‐exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with variable expression and nearly complete penetrance. PTCH1 is the major susceptibility locus and has no known hot spots or genotype–phenotype relationships. METHODS: We evaluated 18 NBCCS National Cancer I...

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Detalles Bibliográficos
Autores principales: Gianferante, D. Matthew, Rotunno, Melissa, Dean, Michael, Zhou, Weiyin, Hicks, Belynda D., Wyatt, Kathleen, Jones, Kristine, Wang, Mingyi, Zhu, Bin, Goldstein, Alisa M., Mirabello, Lisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305672/
https://www.ncbi.nlm.nih.gov/pubmed/30411536
http://dx.doi.org/10.1002/mgg3.498

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