A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions-Reference-Cited by-同舟云学术

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A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions

Published:2024-06-01 Issue: Volume: Page:
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Shabet Christina,Kattapuram Meera,Burton Anna,Thoeny Renata,Nielsen Hailey,Accardo Marie Louise,Smith Emily H.,Koeppe Erika,Else Tobias,Cha Kelly B.

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s10689-024-00402-2.pdf

Reference19 articles.

1. Gupta N, Sunwoo BY, Kotloff RM (2016) Birt-Hogg-Dube Syndrome. Clin Chest Med Sep 37(3):475–486. https://doi.org/10.1016/j.ccm.2016.04.010

2. Sattler EC, Steinlein OK et al (1993) Birt-Hogg-Dube Syndrome. In: Adam MP, Feldman J, Mirzaa GM, eds. GeneReviews((R))

3. Birt AR, Hogg GR, Dube WJ (1977) Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol Dec 113(12):1674–1677

4. Bruinsma FJ, Dowty JG, Win AK et al (2023) Update of penetrance estimates in Birt-Hogg-Dube syndrome. J Med Genet Apr 60(4):317–326. https://doi.org/10.1136/jmg-2022-109104

5. Toro JR, Wei MH, Glenn GM et al (2008) BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports. J Med Genet Jun 45(6):321–331. https://doi.org/10.1136/jmg.2007.054304

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