Outstanding Characteristics of Birt–Hogg–Dube Syndrome in Korea

Autor: Hye Jung Park, Yong Jun Choi, Chul Hwan Park, Tae Hoon Kim, Sung Soo Lee, Duk Hwan Moon, Kyung-A Lee, Sang Eun Lee, Moo Suk Park, Song Yee Kim, Yoon Soo Chang, Seok Jeong Lee, Ji Ye Jung, Ji-Ho Lee, Su Hwan Lee, Taehee Kim, Sung-Ryeol Kim, Kangjoon Kim, Min Kwang Byun

Publikováno v: Diagnostics, Vol 13, Iss 12, p 2047 (2023)

Birt–Hogg–Dube (BHD) is a rare genetic disorder characterized by multiple lung cysts, typical skin manifestations, and renal tumors. We prospectively enrolled thirty-one subjects from four South Korean institutions with typical lung cysts, and ne

Externí odkaz: https://doaj.org/article/24b4fd5f5d694bea9f46372aeadbd8a3

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Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

Autor: Elisabeth H Jaspars, N.C.T. van Grieken, M. B. A. van Doorn, Edward M Leter, Ernie M.H.F. Bongers, Paul C Johannesma, Pieter E. Postmus, Lieke Gijezen, J-H T. M. van Waesberghe, Theo M. Starink, M.A.M. van Steensel, Arjan C. Houweling, Rogier A. Oldenburg, R.J.A. Van Moorselaar, Marianne A. Jonker, T. A. M. van Os, Johan J.P. Gille, K. Y. van Spaendonck-Zwarts, M. M. de Jong, Fred H. Menko

Publikováno v: British Journal of Cancer, 105(12), 1912-1919. Nature Publishing Group
Houweling, A C, Gijezen, L M, Jonker, M A, van Doorn, M B A, Oldenburg, R A, van Spaendonck-Zwarts, K Y, Leter, E M, van Os, T A M, van Grieken, N C T, Jaspars, E H, de Jong, M M, Bongers, E M H F, Johannesma, P C, Postmus, P E, van Moorselaar, R J A, van Waesberghe, J H T M, Starink, T M, van Steensel, M A M, Gille, J J P & Menko, F H 2011, ' Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families ', British Journal of Cancer, vol. 105, no. 12, pp. 1912-1919 . https://doi.org/10.1038/bjc.2011.463
British Jounal of Cancer, 105(12), 1912-1919. Nature Publishing Group
British Journal of Cancer
British journal of cancer, 105(12), 1912-1919. Nature Publishing Group

Background: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee60ff288397312c36a9973e0efd5722
https://doi.org/10.1038/bjc.2011.463

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