Article
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
The Journal of clinical endocrinology and metabolism - 1 Jun 2014
Macedo Delanie B, Abreu Ana Paula, Reis Ana Claudia S, Montenegro Luciana R, Dauber Andrew, Beneduzzi Daiane, Cukier Priscilla, Silveira Leticia F G, Teles Milena G, Carroll Rona S, Junior Gil Guerra, Filho Guilherme Guaragna, Gucev Zoran, Arnhold Ivo J P, de Castro Margaret, Moreira Ayrton C, Martinelli Carlos Eduardo, Hirschhorn Joel N, Mendonca Berenice B, Brito Vinicius N, Antonini Sonir R, Kaiser Ursula B, Latronico Ana Claudia
Abstract excerpt
CONTEXT: Loss-of-function mutations in makorin ring finger 3 (MKRN3), an imprinted gene located on the long arm of chromosome 15, have been recognized recently as a cause of familial central precocious puberty (CPP) in humans. MKRN3 has a potential inhibitory effect on GnRH secretion. OBJECTIVES:...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.