A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung

Nevoid basal cell carcinoma syndrome (NBCCS) manifests multiple defects involving the skin, endocrine and nervous systems, eyes and bones. Mutations in the patched homologue 1 (PTCH1) gene are the underlying causes of NBCCS, leading to aberrant cell proliferation through constitutive activation of t...

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Detalles Bibliográficos
Autores principales: Miyata, Ryo, Kurosawa, Manabu, Sato, Masaaki, Kono, Tomoya, Takubo, Yasutaka, Okai, Shinsaku, Yamada, Keisuke, Shinkura, Reiko, Date, Hiroshi, Matsuda, Fumihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785575/
https://www.ncbi.nlm.nih.gov/pubmed/27081528
http://dx.doi.org/10.1038/hgv.2015.14

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