Clinical Features and Mutation Analysis of the SMARCAD1 Gene in a Family with Basan Syndrome and a Literature Review
Objective To summarize the clinical features of a family with Basan syndrome and to analyze mutation of the SMARCAD1 gene. Methods The Basan family was diagnosed at Dermatology Hospital, Southern Medical University in 2022. Backgroud data was collected, and clinical and genetic characteristics were...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | zho |
| Published: |
Editorial Office of Journal of Rare Diseases
2023-04-01
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| Series: | 罕见病研究 |
| Subjects: | |
| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.02.006 |