A novel nonsense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type i

Li Hsuan Chen, Chung Chu Ning, Sheau Chiou Chao

研究成果: Article同行評審

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
頁(從 - 到)19-21
頁數3
期刊Dermatologica Sinica
29
發行號1
DOIs
出版狀態Published - 2011 三月

All Science Journal Classification (ASJC) codes

  • Dermatology

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