Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.
Park HJ, Choi YJ, Park CH, Kim TH, Lee SS, Moon DH, Lee KA, Lee SE, Park MS, Kim SY, Chang YS, Lee SJ, Jung JY, Lee JH, Lee SH, Kim T, Kim SR, Kim K, Byun MK.
Park HJ, et al.
Diagnostics (Basel). 2023 Jun 13;13(12):2047. doi: 10.3390/diagnostics13122047.
Diagnostics (Basel). 2023.
PMID: 37370942
Free PMC article.
Next-generation sequencing was performed to investigate mutations in the following genes: FLCN, TSC1, TSC2, CFTR, EFEMP2, ELN, FBLN5, LTBP4, and SERPINA1. BHD was diagnosed in 11 of the 31 enrolled subjects (35.5%; FLCN mutations). ...
Next-generation sequencing was performed to investigate mutations in the following genes: FLCN, TSC1, TSC2, CFTR, EFEMP2, ELN, FBL …