Gorlin Syndrome in a type IV-skin person with a novel PTCH1 mutation: Case report and literature review

• 主要な著者: S. AlSalem (著者), Y. Binamer (著者)
• フォーマット: 図書
• 出版事項: Wolters Kluwer Medknow Publications, 2016-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin Syndrome, is an autosomal dominant multisystem disorder, characterized by multiple developmental abnormalities and inactivation germline mutations in the human homolog of the patched (PTCH) gene. We are presenting a case of NBCCS in a skin type...