Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations

CONTEXT: Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause of familial central precocious puberty (CPP). OBJECTIVE: To describe the clinical and hormonal features of a large cohort of patients with CPP due to MKRN3 mutations and compare the chara...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Seraphim, Carlos Eduardo, Canton, Ana Pinheiro Machado, Montenegro, Luciana, Piovesan, Maiara Ribeiro, Macedo, Delanie B, Cunha, Marina, Guimaraes, Aline, Ramos, Carolina Oliveira, Benedetti, Anna Flavia Figueiredo, de Castro Leal, Andrea, Gagliardi, Priscila C, Antonini, Sonir R, Gryngarten, Mirta, Arcari, Andrea J, Abreu, Ana Paula, Kaiser, Ursula B, Soriano-Guillén, Leandro, Escribano-Muñoz, Arancha, Corripio, Raquel, Labarta, José I, Travieso-Suárez, Lourdes, Ortiz-Cabrera, Nelmar Valentina, Argente, Jesús, Mendonca, Berenice B, Brito, Vinicius N, Latronico, Ana Claudia
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7993586/
https://ncbi.nlm.nih.gov/pubmed/33383582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgaa955
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