Sporadic lymphangioleiomyomatosis in a man with somatic mosaicism of <i>TSC2</i> mutations, a case report-Reference-Cited by-同舟云学术

Sporadic lymphangioleiomyomatosis in a man with somatic mosaicism of TSC2 mutations, a case report

Published:2023-10-16 Issue: Volume: Page:
ISSN:1460-2725
Container-title:QJM: An International Journal of Medicine
language:en
Short-container-title:

Author:

Wang Y¹,Hu D¹,Liu Y²,Yang L¹,Huang J¹,Zhou J³,Guo L⁴,Fan X⁵,Huang X⁵,Peng M¹,Cheng C¹,Zhang W³,Feng R⁶,Tian X¹,Yu S⁵,Xu K -F¹^ORCID

Affiliation:

1. Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China

2. McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing 100005, China

3. Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China

4. Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Center , Beijing, China

5. Clinical Genome Center, Guangzhou KingMed Diagnostics Group Co., Ltd. , Guangdong, China

6. Department of Pathology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing, China

Funder

National Natural Science Foundation of China

CAMS Innovation Fund for Medical Sciences

National High Level Hospital Clinical Research Funding

Publisher

Oxford University Press (OUP)

Subject

General Medicine

Link

https://academic.oup.com/qjmed/advance-article-pdf/doi/10.1093/qjmed/hcad235/52309009/hcad235.pdf

Reference3 articles.

1. Lymphangioleiomyomatosis;Xu;Semin Respir Crit Care Med,2020

2. Clinical features and outcomes of male patients with lymphangioleiomyomatosis. A review;Zhang;Medicine (Baltimore),2022

3. Apparent sporadic lymphangioleiomyomatosis in a man as a result of extreme mosaicism for a TSC2 mutation;Han;Ann Am Thorac Soc,2017