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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)19-21
Number of pages3
JournalDermatologica Sinica
Volume29
Issue number1
DOIs
Publication statusPublished - 2011 Mar

All Science Journal Classification (ASJC) codes

  • Dermatology

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