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 PulidoJay H RyuElke C SattlerOrtrud K SteinleinSara TomassettiKathy TuckerDaniela TurchettiIrma van de BeekLore van RielMaurice van SteenselThierry ZenoneMaurizo ZompatoriJennifer WalshDavide BondavalliEamonn R MaherIngrid M Winshipnull nullPublished 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.
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