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

doi:10.1016/j.dsi.2011.01.001

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

Department of Dermatology

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	19-21
Number of pages	3
Journal	Dermatologica Sinica
Volume	29
Issue number	1
DOIs	https://doi.org/10.1016/j.dsi.2011.01.001
Publication status	Published - 2011 Mar

All Science Journal Classification (ASJC) codes

Dermatology

Access to Document

10.1016/j.dsi.2011.01.001

Fingerprint Dive into the research topics of 'A novel nonsense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type i'. Together they form a unique fingerprint.

Cite this

@article{10d2279869154f839d2a24c7beb5c032,

title = "A novel nonsense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type i",

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.",

author = "Chen, {Li Hsuan} and Ning, {Chung Chu} and Chao, {Sheau Chiou}",

year = "2011",

month = mar,

doi = "10.1016/j.dsi.2011.01.001",

language = "English",

volume = "29",

pages = "19--21",

journal = "Dermatologica Sinica",

issn = "1027-8117",

publisher = "Elsevier",

number = "1",

}

TY - JOUR

T1 - A novel nonsense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type i

AU - Chen, Li Hsuan

AU - Ning, Chung Chu

AU - Chao, Sheau Chiou

PY - 2011/3

Y1 - 2011/3

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=79954420046&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79954420046&partnerID=8YFLogxK

U2 - 10.1016/j.dsi.2011.01.001

DO - 10.1016/j.dsi.2011.01.001

M3 - Article

AN - SCOPUS:79954420046

VL - 29

SP - 19

EP - 21

JO - Dermatologica Sinica

JF - Dermatologica Sinica

SN - 1027-8117

IS - 1

ER -