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Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature

  • Published:2018-02-13 Issue:3 Volume:6 Page:332-338
  • ISSN:2324-9269
  • Container-title:Molecular Genetics & Genomic Medicine
  • language:en
  • Short-container-title:Mol Genet Genomic Med

Author:

Geilswijk Marianne1ORCID,Bendstrup Elisabeth2,Madsen Mia Gebauer3,Sommerlund Mette4,Skytte Anne-Bine1

Affiliation:

1. Department of Clinical Genetics; Aarhus University Hospital; Aarhus N Denmark

2. Department of Respiratory Disease and Allergy; Aarhus University Hospital; Aarhus C Denmark

3. Department of Urology; Aarhus University Hospital; Aarhus N Denmark

4. Department of Dermatology; Aarhus University Hospital; Aarhus C Denmark

Funder

Health Research Fund of Central Denmark Region

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference38 articles.

1. A novel familial germline mutation in the initiator codon of the BHD gene in a patient with birt-hogg-dubé syndrome;Bessis;British Journal of Dermatology,2006

2. BHD foundation https://www.bhdsyndrome.org/for-researchers/what-is-bhd/introduction/published-bhd-families/ 2017

3. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons;Birt;Archives of Dermatology,1977

4. A case of birt-hogg-dubé syndrome presenting with a single pedunculated fibrofolliculoma and a novel FLCN gene mutation;César;Actas Dermo-Sifiliograficas,2016

5. Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with birt-hogg-dube syndrome;Chung;International Journal of Dermatology,1996

Cited by 16 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Pneumothorax spontané primitif de l’enfant : une mise au point;Journal de Pédiatrie et de Puériculture;2024-08

2. Birt-Hogg-Dubé syndrome with recurrent pneumothorax starting at age 12: A case report;The Journal of the Japanese Association for Chest Surgery;2024-05-15

3. Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report;Annals of Medicine & Surgery;2024-01-03

4. Maladies kystiques pulmonaires de l’adulte d’origine génétique;Revue des Maladies Respiratoires;2024-01

5. Recommendations on scuba diving in Birt-Hogg-Dubé syndrome;Expert Review of Respiratory Medicine;2023-11-02
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