Article
Complete Penetrance and Absence of Intrafamilial Variability in a Large Family with Hereditary Leiomyomatosis and Renal Cell Carcinoma.
Dermatology (Basel, Switzerland) - 1 Jan 2016
Guinard Elisabeth, Legendre Laureline, Kramkimel Nora, Avril Marie Françoise, Chassaing Nicolas, Cabaret Odile, Guillaud-Bataille Marine, Mazereeuw Hautier Juliette
Abstract excerpt
BACKGROUND: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant familial disorder due to FH mutation. Despite a considerable increase in information about the genetic background, inter- and intrafamilial phenotypic variability/penetrance are not well documented. OBJECTIVE: To describe a large French HLRCC family and provide new data on penetrance and intrafamilial variability....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.