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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Publicat a:J Clin Endocrinol Metab
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
Matèries:
Clinical Research Articles
Accés en línia: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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