Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3

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: Th...

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Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Endocrine Society 2014
Предметы:
JCEM Online: Advances in Genetics
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4037732/
https://ncbi.nlm.nih.gov/pubmed/24628548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-3126
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