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Gorlin-Goltz Syndrome: A Case Report and Literature Review with < em > PTCH1 < /em > Gene Sequencing
Arch Plast Surg. 2023 Aug 2;50(4):384-388. doi: 10.1055/a-2096-3536. eCollection 2023 Jul.ABSTRACTGorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 ( PTCH1 ) gene variants and/or SUFU gene variants. The presence of either two main criteria or one major and two minor criteria are required for the diagnosis of Gorlin-Goltz syndrome. Recently, a major criterion for molecular confirmation has also been proposed. In this article, we report the case of an 80-year-old male ...
Source: Archives of Plastic Surgery - August 11, 2023 Category: Cosmetic Surgery Authors: Hyo Seong Kim Seung Heo Kyung Sik Kim Joon Choi Jeong Yeol Yang Source Type: research
