Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature-Reference-Cited by-同舟云学术

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Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature

Published:2021-08-06 Issue: Volume: Page:1-7
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Konstantinou Eleni K.¹²,Shaikh Noreen¹³,Ramsey David J.¹²^ORCID

Affiliation:

1. Department of Ophthalmology, Lahey Hospital & Medical Center, Beth Israel Lahey Health, Peabody, Massachusetts, USA

2. Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts, USA

3. Department of Ophthalmology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA

Funder

Myles and Gertrude Hanson Foundation, Providence, Rhode Island

Lahey Hospital & Medical Center

Beth Israel Lahey Health, Peabody, Massachusetts

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1961281

Reference15 articles.

1. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol. 1977;113. https://jamanetwork.com/

2. Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families with Birt-Hogg-Dubé Syndrome

3. Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome

4. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports

5. Database overkill

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1. Birt–Hogg–Dubé syndrome presenting with bilateral pneumothorax, skin, kidney, liver, and brain lesions;Journal of Family Medicine and Primary Care;2024-05

2. Multimodal image alignment aids in the evaluation and monitoring of sector retinitis pigmentosa;Ophthalmic Genetics;2022-06-29

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