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Multiple Facial Nevoid Basal Cell Carcinoma Syndrome: A Genetic Testing and Literature Review in a Case Report

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NIAID Data Ecosystem2026-05-02 收录
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https://www.ncbi.nlm.nih.gov/sra/SRP604346
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资源简介:
In this case report, we report a rare case of Nevoid Basal Cell Carcinoma Syndrome. We performed an Owing to whole-exome sequencing test on the patient, introduced the treatment method in detail, and discussed the particularity of the case. In particular, the discovery we explored in the article, Owing to whole-exome sequencing, site mutation c.3080G>A(p.Trp1027Ter) in the PTCH1 gene was confirmed, which is very meaningful for the treatment of the rare Nevoid Basal Cell Carcinoma Syndrome.
创建时间:
2025-07-31
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