Article
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2022
Savatt Juliann M, Shimelis Hermela, Moreno-De-Luca Andres, Strande Natasha T, Oetjens Matthew T, Ledbetter David H, Martin Christa Lese, Myers Scott M, Finucane Brenda M
Abstract excerpt
PURPOSE: Penetrance estimates of Birt-Hogg-Dubé syndrome (BHD)-associated cutaneous, pulmonary, and kidney manifestations are based on clinically ascertained families. In a health care system population, we used a genetics-first approach to estimate the prevalence of pathogenic/likely pathogenic (P/LP) truncating variants in FLCN, which cause BHD, and the penetrance of BHD-related phenotypes. METHODS: Exomes from...
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