Update of penetrance estimates in Birt-Hogg-Dubé syndrome.

Fiona Jane BruinsmaJames G DowtyAung Ko WinLaura C GoddardPrachi AgrawalDomenico Attina'Nabil BissadaMonica De LuiseDaniel B EisenMitsuko FuruyaGiuseppe GasparreMaurizio GenuardiAnne-Marie GerdesThomas Van Overeem HansenArjan C HouwelingPaul Christiaan JohannesmaAndré LencastreDerek LimNoralane M LindorValentina LuzziMaeve LynchAntonella MafféFred H MenkoGuido MichelsJose S PulidoRyu H JayElke C SattlerOrtrud K SteinleinSara TomassettiKathy TuckerDaniela TurchettiIrma van de BeekLore van RielMaurice van SteenselThierry ZenoneMaurizo ZompatoriJennifer WalshDavide BondavalliEamonn R MaherIngrid M Winshipnull null

Published in: Journal of medical genetics (2023)

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

Keyphrases

case report
genome wide
gene expression
smoking cessation
dna methylation
copy number
hepatitis c virus
hiv testing
men who have sex with men