نتایج جستجو برای: basal cell nevus syndrome
تعداد نتایج: 2291746 فیلتر نتایج به سال:
Loss-of-function mutations in Patched (Ptch1) are implicated in constitutive activation of the Sonic hedgehog pathway in human basal cell carcinomas (BCCs), and inherited Ptch1 mutations underlie basal cell nevus syndrome in which a typical feature is multiple BCC occurring with greater incidence in portals of radiotherapy. Mice in which one copy of Ptch1 is inactivated show increased susceptib...
Gorlin syndrome (also known as basal cell nevus syndrome) is a hereditary condition characterized by development of numerous epidermal and follicular tumors. Mutations in theSHH signaling pathway are key drivers this disease. It currently unknown whether SHH mutations non-epidermal types play role phenotypes, the tumor microenvironment, or altered skin development. Through lineage tracing using...
Basal cell nevus syndrome is an autosomal dominant condition with complete penetrance and variable expressivity. It is characterized by five major components, including multiple nevoid basal cell carcinomas, jaw cysts, congenital skeletal abnormalities, ectopic calcifications, and plantar or palmar pits. Other features include a host of benign tumors, ocular defects, and cleft lip and palate. G...
On September 30, 2011, Annals of Dermatology in Volume 23, Number Supplementary 1, published a case report by Go JW, et al. on the basal cell nevus syndrome. We accepted the article after having been informed in writing, by the authors, that it had not been submitted for publication elsewhere. In fact, however, the same case had already been reported by Moon MS, et al., the colleagues in the sa...
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