Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene-Reference-Cited by-同舟云学术

Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene

Published:2022 Issue:1 Volume:34 Page:66
ISSN:1013-9087
Container-title:Annals of Dermatology
language:en
Short-container-title:Ann Dermatol

Author:

Hasal Eda¹^ORCID,Baskan Emel Bulbul¹^ORCID,Gul Seref²^ORCID,Dilektasli Asli Gorek³^ORCID,Sag Sebnem Ozemri⁴^ORCID,Adim Saduman Balaban⁵^ORCID,Temel Sehime Gulsun⁴⁶⁷^ORCID

Affiliation:

1. Department of Dermatology and Venereology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey.

2. Department of Chemical and Biological Engineering, Faculty of Engineering, Koc University, Istanbul, Turkey.

3. Department of Respiratory Medicine, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey.

4. Department of Medical Genetics, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey.

5. Department of Pathology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey.

6. Department of Histology & Embryology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey.

7. Department of Translational Medicine, Health Sciences Institude, Bursa Uludağ University, Bursa, Turkey.

Publisher

Korean Dermatological Association and The Korean Society for Investigative Dermatology

Subject

Dermatology

Link

https://anndermatol.org/pdf/10.5021/ad.2022.34.1.66

Reference20 articles.

1. Hereditary Multiple Fibrofolliculomas With Trichodiscomas and Acrochordons

2. Birt-Hogg-Dubé syndrome: diagnosis and management

3. Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2

4. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

5. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

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4. Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome;Orphanet Journal of Rare Diseases;2023-05-12

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