MON-251 Clinical Features of a Large Cohort of Patients with Familial Central Precocious Puberty Caused by Loss-of-Function Mutations in MKRN3

Context: Loss-of-function mutations in Makorin RING-finger 3 (MKRN3), a maternal imprinted gene located on the long arm of chromosome 15, are the most prevalent cause of familial central precocious puberty (CPP). Objectives: To describe the clinical and hormonal features of 70 patients with CPP due...

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Veröffentlicht in:J Endocr Soc
Hauptverfasser: Seraphim, Carlos, Canton, Ana, Montenegro, Luciana, Piovesan, Maiara, Cunha-Silva, Marina, Macedo, Delanie, Guimarães, Aline, Ramos, Carolina, Gagliardi, Priscila, Abreu, Ana Paula, Kaiser, Ursula, Mendonca, Berenice, Brito, Vinicius, Latronico, Ana Claudia
Format: Artigo
Sprache:Inglês
Veröffentlicht: Endocrine Society 2019
Schlagworte:
Pediatric Endocrinology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6551101/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-MON-251
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