A novel <scp>TRPS1</scp> mutation in a Chinese patient with trichorhinophalangeal syndrome type I-Reference-Cited by-同舟云学术

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A novel TRPS1 mutation in a Chinese patient with trichorhinophalangeal syndrome type I

Published:2022-11-14 Issue:3 Volume:50 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Li Mei¹²,Dong Li‐Ping¹²,Qin Shi‐Chun¹²,Tang Zhen‐Hai³,Wang Rui¹²,Xiao Feng‐Li¹²³⁴^ORCID

Affiliation:

1. Department of Dermatology of First Affiliated Hospital and Institute of Dermatology Anhui Medical University Hefei China

2. Key Laboratory of Dermatology (Anhui Medical University) Ministry of Education Hefei China

3. The Center for Scientific Research of Anhui Medical University Hefei China

4. Inflammation and Immune Mediated Diseases Laboratory of Anhui Province Hefei China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16640

Reference5 articles.

1. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8

2. Novel mutation of TRPS1 in a patient with tricho‐rhino‐phalangeal syndrome

3. Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing

4. A novelde novononsense mutation in theTRPS1gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I

5. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells

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