TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations-Reference-Cited by-同舟云学术

TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations

Published:2020-08-10 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Wang Chen¹^ORCID,Xu Yufei¹,Qing Yanrong¹,Yao Ruen¹^ORCID,Li Niu¹^ORCID,Wang Xiumin²,Yu Tingting¹,Wang Jian¹^ORCID

Affiliation:

1. Department of Medical Genetics and Molecular Diagnostic Laboratory Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai People's Republic of China

2. Department of Endocrinology and Metabolism Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai People's Republic of China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1417

Reference20 articles.

1. Treatment of Hair Loss in the Trichorhinophalangeal Syndrome

2. Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

3. Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1