PLACK syndrome caused by novel pathogenic variants in CAST: a case report and literature review
| Autor: | Bin Hu, Zhuoqing Gong, Sha Peng, Huijin Wang, Liuqing Chen, Zhimiao Lin |
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| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Clinical and Experimental Dermatology. |
| ISSN: | 1365-2230 0307-6938 |
| DOI: | 10.1093/ced/llad167 |
| Popis: | We report on a patient with PLACK syndrome carrying compound heterozygous novel variants in CAST, and make a literature review. PLACK syndrome is an extremely rare skin disease with only ten cases reported worldwide. |
| Databáze: | OpenAIRE |
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