SUN-085 Clinical and Hormonal Features of 37 Families with Central Precocious Puberty Due to MKRN3 Loss-Of -Function Mutations

Context: Loss-of-function mutations in the maternally imprinted Makorin RING-finger 3 (MKRN3) gene (15q11.2) are the most prevalent cause of familial central precocious puberty (CPP). Objectives: To analyze the phenotypes of a large cohort of children with CPP due to MKRN3 mutations and to compare t...

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Detalles Bibliográficos
Autores principales: Seraphim, Carlos Eduardo, Canton, Ana Pinheiro Machado, Montenegro, Luciana Ribeiro, Piovesan, Maiara Ribeiro, Bohlen, Tabata Mariz, Frazao, Renata, Macedo, Delanie Bulcão, de Faria, Aline Guimarães, Ramos, Carolina, Gagliardi, Priscila Carvalho, Abreu, Ana Paula, Leal, Andrea de Castro, Castro, Margaret De, Antonini, Sonir Roberto Rauber, Soriano-Guillén, Leandro, Escribano-Muñoz, Arancha, Collado, Raquel Corripio, Labarta, Jose Ignacio, Lourdes, Travieso-Suárez, Ortiz-Cabrera, Neimar Valentina, Argente, Jesús, Mendonca, Berenice Bilharinho, Kaiser, Ursula B, Brito, Vinicius Nahime, Latronico, Ana Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207268/
http://dx.doi.org/10.1210/jendso/bvaa046.1379

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