Article
Whole-exome identifies RXRG and TH germline variants in familial isolated prolactinoma.
Cancer genetics - 1 Jun 2016
Melo Flavia M, Couto Patrícia P, Bale Allen E, Bastos-Rodrigues Luciana, Passos Flavia M, Lisboa Raony G C, Ng Jessica M Y, Curran Tom, Dias Eduardo P, Friedman Eitan, De Marco Luiz
Abstract excerpt
Familial isolated pituitary adenoma (FIPA) is a rare genetic disorder. In a subset of FIPA families AIP germline mutations have been reported, but in most FIPA cases the exact genetic defect remains unknown. The present study aimed to determine the genetic basis of FIPA in a Brazilian family. Three siblings presented with isolated prolactin genes. Further mutation screening was performed using whole-exome...
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