SUN-264 Mutations in the Maternally Imprinted Genes, MKRN3 and DLK1, Associated with Central Precocious Puberty

Context: Central precocious puberty (CPP) results from premature activation of the hypothalamic–pituitary–gonadal axis. Loss-of-function mutations in makorin ring finger 3 (MKRN3), a maternally imprinted gene, have been recognized as the most common genetic cause of CPP. More recently, a complex def...

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Pubblicato in:J Endocr Soc
Autori principali: Abreu, Ana Paula, Garcia, Leonardo, Pereira, Sidney, Macedo, Delanie, Magnusson, Melissa, Gagliardi, Priscila, Tütüncüler, Filiz, Bird, Keisha, Lofrano-Porto, Adriana, Roberts, Stephanie, Carroll, Rona, Latronico, Ana Claudia, Kaiser, Ursula
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2019
Soggetti:
Pediatric Endocrinology
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553159/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-264
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