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
N1 - Copyright:
Copyright 2011 Elsevier B.V., All rights reserved.
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.
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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 -