摘要
The trichorhinophalangeal syndromes are rare malformation syndromes with autosomal dominant inheritance. Diagnostic features include distinctive facial dysmorphisms and various skeletal abnormalities. The affected gene, the TRPS1 on 8q24.1, was first identified in 2000 and more than 50 mutations have been found. We present a patient with a novel nonsense mutation in the TRPS1 gene.
原文 | English |
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頁(從 - 到) | 19-21 |
頁數 | 3 |
期刊 | Dermatologica Sinica |
卷 | 29 |
發行號 | 1 |
DOIs | |
出版狀態 | Published - 2011 3月 |
All Science Journal Classification (ASJC) codes
- 皮膚科