Update of penetrance estimates in Birt-Hogg-Dubé syndrome. Fiona Jane Bruinsma , James G Dowty , Aung Ko Win , Laura C Goddard , Prachi Agrawal , Domenico Attina' , Nabil Bissada , Monica De Luise , Daniel B Eisen , Mitsuko Furuya , Giuseppe Gasparre , Maurizio Genuardi , Anne-Marie Gerdes , Thomas Van Overeem Hansen , Arjan C Houweling , Paul Christiaan Johannesma , André Lencastre , Derek Lim , Noralane M Lindor , Valentina Luzzi , Maeve Lynch , Antonella Maffé , Fred H Menko , Guido Michels , Jose S Pulido , Jay H Ryu , Elke C Sattler , Ortrud K Steinlein , Sara Tomassetti , Kathy Tucker , Daniela Turchetti , Irma van de Beek , Lore van Riel , Maurice van Steensel , Thierry Zenone , Maurizo Zompatori , Jennifer Walsh , Davide Bondavalli , Eamonn R Maher , Ingrid M Winship Journal of medical genetics（2023）
摘要
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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关键词
Gene Expression, Genetic Predisposition to Disease, Genetic Research, Human Genetics
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