Novel deletion mutation of TRPS1 gene in a Chinese case of Trichorhinophalangeal syndrome type I

被引：0
|
作者：
Dai, S. [1 ]
Nan, X. [2 ]
Li, C. [1 ]
Chen, X. [1 ]
Zhao, H. [2 ]
Zhang, F. [1 ]
Song, Q. [1 ]
机构：
[1] Peking Univ, Hosp 3, Beijing 100871, Peoples R China
[2] Peking Univ, Beijing 100871, Peoples R China
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2013年 / 133卷
关键词：
D O I：
暂无
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
768
引用
收藏
页码：S130 / S130
页数：1
相关论文
共 50 条
  • [1] Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I
    Nan, Xu
    Dai, Shan
    Li, Chun-ting
    Chen, Xue-rong
    Zhao, Hong-shan
    Zhang, Feng-shan
    Song, Qing-hua
    GENE, 2013, 523 (01) : 88 - 91
  • [2] A novel deletion mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type I
    Dai, S.
    Nan, X.
    Li, C-T
    Chen, X-R
    Zhao, H-S
    Zhangi, F-S
    Song, O-H
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2013, 133 (05) : 1414 - 1414
  • [3] A novel nonsense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I
    Chen, Li-Hsuan
    Ning, Chung-Chu
    Chao, Sheau-Chiou
    DERMATOLOGICA SINICA, 2011, 29 (01) : 19 - 21
  • [4] A novel TRPS1 mutation in a Chinese patient with trichorhinophalangeal syndrome type I
    Li, Mei
    Dong, Li-Ping
    Qin, Shi-Chun
    Tang, Zhen-Hai
    Wang, Rui
    Xiao, Feng-Li
    JOURNAL OF DERMATOLOGY, 2023, 50 (03): : E112 - E114
  • [5] A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour
    Nakamura, M.
    Sugita, K.
    Tokura, Y.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2010, 24 (03) : 358 - 359
  • [6] A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III
    Tariq, M.
    Ahmad, S. .
    Ahmad, W.
    BRITISH JOURNAL OF DERMATOLOGY, 2008, 159 (02) : 476 - 478
  • [7] Trichorhinophalangeal syndrome: report of a novel familial TRPS1 mutation
    Al-Dosari, Mohammed S.
    Alkuraya, Fowzan S.
    CLINICAL DYSMORPHOLOGY, 2010, 19 (02) : 98 - 100
  • [8] A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome
    Ryuichi Saito
    Takashi Yamaguchi
    Shun Ohmori
    Sanehito Haruyama
    Yu Sawada
    Manabu Yoshioka
    Etsuko Okada
    Motonobu Nakamura
    European Journal of Dermatology, 2018, 28 : 107 - 108
  • [9] A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome
    Saito, Ryuichi
    Yamaguchi, Takashi
    Ohmori, Shun
    Haruyama, Sanehito
    Sawada, Yu
    Yoshioka, Manabu
    Okada, Etsuko
    Nakamura, Motonobu
    EUROPEAN JOURNAL OF DERMATOLOGY, 2018, 28 (01) : 107 - 108
  • [10] Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients
    Chen, L-H.
    Ning, C-C.
    Chao, S-C.
    BRITISH JOURNAL OF DERMATOLOGY, 2010, 163 (02) : 416 - 419
12345