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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Detalles Bibliográficos
Autores principales: Park, Hye Jung, Choi, Yong Jun, Park, Chul Hwan, Kim, Tae Hoon, Lee, Sung Soo, Moon, Duk Hwan, Lee, Kyung-A, Lee, Sang Eun, Park, Moo Suk, Kim, Song Yee, Chang, Yoon Soo, Lee, Seok Jeong, Jung, Ji Ye, Lee, Ji-Ho, Lee, Su Hwan, Kim, Taehee, Kim, Sung-Ryeol, Kim, Kangjoon, Byun, Min Kwang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10296880/
https://www.ncbi.nlm.nih.gov/pubmed/37370942
http://dx.doi.org/10.3390/diagnostics13122047

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