Update of penetrance estimates in Birt-Hogg-Dube syndrome

Conclusions
These updated penetrance estimates, based on a large number of families, are important for the genetic counselling and clinical management of BHD syndrome.

Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Bruinsma, F. J., Dowty, J. G., Win, A. K., Goddard, L. C., Agrawal, P., Attina', D., Bissada, N., De Luise, M., Eisen, D. B., Furuya, M., Gasparre, G., Genuardi, M., Gerdes, A.-M., Hansen, T. V. O., Houweling, A. C., Johannesma, P. C., Lencastre, A., Lim, Tags: Systematic review Source Type: research