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
  • [21] Trichorhinophalangeal syndrome type 1 (TRPS1) expression in male breast carcinoma
    Law, Timothy
    Piotrowski, Matthew J.
    Ning, Jing
    Jiang, Xinyang
    Ding, Qingqing
    Sahin, Aysegul A.
    [J]. HUMAN PATHOLOGY, 2023, 138 : 62 - 67
  • [22] An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I
    Zepeda-Mendoza, Cinthya J.
    Cousin, Margot A.
    Basu, Shubham
    Jenkinson, Garrett
    Oliver, Gavin
    Pittock, Siobhan T.
    Baughn, Linda B.
    Klee, Eric W.
    Babovic-Vuksanovic, Dusica
    [J]. COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2019, 5 (06):
  • [23] A patients with trichorinophalangeal syndrome type I (TRPS1) and a SHOX mutation
    Scarano, Emanuela
    Mazzanti, Laura
    Baldazzi, Lilia
    Bergamaschi, Rosalba
    Nicoletti, Annalisa
    Torella, Michele
    Matteucci, Chiara
    Cicognani, Alessandro
    [J]. HORMONE RESEARCH, 2009, 72 : 246 - 246
  • [24] Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls
    Hashmi, Atif Ali
    Brogi, Edi
    Wen, Hannah Y.
    [J]. DIAGNOSTIC PATHOLOGY, 2025, 20 (01)
  • [25] Trichorhinophalangeal Syndrome Type 1 (TRPS1) Immunohistochemical Expression in Carcinomas of Mullerian Origin
    Casas, Felipe Ruiz
    Tjendra, Youley
    Millan, Nicolas
    Gomez-Fernandez, Carmen
    Pinto, Andre
    [J]. LABORATORY INVESTIGATION, 2023, 103 (03) : S974 - S975
  • [26] Tricho-rhino-phalangeal type I syndrome and mental retardation: Identification of a novel mutation in the TRPS1 gene
    Gonzalez-Huerta, Luz M.
    Cuevas-Covarrubias, Sergio A.
    Messina-Baas, Olga M.
    [J]. JOURNAL OF DERMATOLOGICAL SCIENCE, 2007, 48 (01) : 61 - 63
  • [27] Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge
    Huang, Qi
    Jiang, Cheng
    Sun, Jiazhong
    Xue, Junli
    Zhang, Victor Wei
    [J]. FRONTIERS IN PEDIATRICS, 2022, 10
  • [28] A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family
    Itoh, Masatsune
    Kittaka, Yuko
    Niida, Yo
    Saikawa, Yutaka
    [J]. CLINICAL PEDIATRIC ENDOCRINOLOGY, 2016, 25 (03) : 115 - 118
  • [29] A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I
    Farooq, Muhammad
    Fujikawa, Hiroki
    Fujimoto, Atsushi
    Kubo, Yoshiaki
    Ito, Masaaki
    Shimomura, Yutaka
    [J]. INTERNATIONAL JOURNAL OF DERMATOLOGY, 2014, 53 (08) : 1012 - 1015
  • [30] Identification of a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient
    Zhou, Shuhua
    Jin, Dehui
    Song, Yali
    [J]. JOURNAL OF DERMATOLOGY, 2013, 40 (04) : 277 - 278
12345