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Outstanding Characteristics of Birt–Hogg–Dube Syndrome in Korea

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 next-generation sequencing was conducted. We prospective...

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Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2023-06-01
coleção:Diagnostics
Assuntos:
Birt–Hogg–Dube syndrome
cystic lung disease
chest computed tomography
folliculin gene (FLCN) mutation
Acesso em linha:https://www.mdpi.com/2075-4418/13/12/2047
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