A novel <scp>WDR60</scp> variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report-Reference-Cited by-同舟云学术

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A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report

Published:2022-11 Issue:11 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Zhao Xiangzhong¹,Sui Aihua¹,Cui Li²,Liu Zhiying¹³,Zhang Ruixiao³,Han Yue³,Shao Leping³^ORCID

Affiliation:

1. Medical Research Center The Affiliated Hospital of Qingdao University Qingdao China

2. Department of Nephrology The Affiliated Hospital of Qingdao University Qingdao People's Republic of China

3. Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6561

Reference25 articles.

1. Sending mixed signals: Cilia-dependent signaling during development and disease

2. The primary cilium: a signalling centre during vertebrate development

3. Primary Cilia and Coordination of Receptor Tyrosine Kinase (RTK) and Transforming Growth Factor β (TGF-β) Signaling

4. Wnt and planar cell polarity signaling in cystic renal disease

5. A systems‐biology approach to understanding the ciliopathy disorders;Lee JE;Genome Med,2011

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