Genotype–phenotype correlations in central precocious puberty caused by MKRN3 mutations (2021)
- Authors:
- Seraphim, Carlos Eduardo

- Canton, Ana Pinheiro Machado

- Montenegro, Luciana Ribeiro
- Piovesan, Maiara Ribeiro

- Macedo, Delanie B.
- Cunha, Marina
- Guimaraes, Aline
- Ramos, Carolina Oliveira
- Benedetti, Anna Flavia Figueredo
- Leal, Andréa de Castro
- Gagliardi, Priscila C.
- Antonini, Sonir Roberto Rauber

- Gryngarten, Mirta
- Arcari, Andrea J.
- Abreu, Ana Paula
- Kaiser, Ursula B.
- Soriano-Guillen, Leandro
- Escribano-Muñoz, Arancha
- Corripio, Raquel
- Labarta, José I
- Travieso-Suárez, Lourdes
- Ortiz-Cabrera, Nelmar Valentina
- Argente, Jesús
- Mendonca, Berenice Bilharinho de

- Brito, Vinicius Nahime de

- Latronico, Ana Claudia

- Seraphim, Carlos Eduardo
- USP affiliated authors: ANTONINI, SONIR ROBERTO RAUBER - FMRP ; MONTENEGRO, LUCIANA RIBEIRO - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM ; BRITO, VINICIUS NAHIME DE - FM ; XAVIER, ANA CLAUDIA LATRÔNICO - FM ; SERAPHIM, CARLOS EDUARDO - FM ; PIOVESAN, MAIARA RIBEIRO - FM
- Unidades: FMRP; FM
- DOI: 10.1210/clinem/dgaa955
- Subjects: GENÓTIPOS; FENÓTIPOS; PUBERDADE PRECOCE; MUTAÇÃO GENÉTICA
- Keywords: Precocious puberty; MKRN3; Genetic of puberty; MKRN3 phenotype
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Clinical Endocrinology and Metabolism
- ISSN: 0021-972X
- Volume/Número/Paginação/Ano: v. 106, n. 4, p. 1041-1050, 2021
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
SERAPHIM, Carlos Eduardo et al. Genotype–phenotype correlations in central precocious puberty caused by MKRN3 mutations. Journal of Clinical Endocrinology and Metabolism, v. 106, n. 4, p. 1041-1050, 2021Tradução . . Disponível em: https://doi.org/10.1210/clinem/dgaa955. Acesso em: 26 dez. 2025. -
APA
Seraphim, C. E., Canton, A. P. M., Montenegro, L. R., Piovesan, M. R., Macedo, D. B., Cunha, M., et al. (2021). Genotype–phenotype correlations in central precocious puberty caused by MKRN3 mutations. Journal of Clinical Endocrinology and Metabolism, 106( 4), 1041-1050. doi:10.1210/clinem/dgaa955 -
NLM
Seraphim CE, Canton APM, Montenegro LR, Piovesan MR, Macedo DB, Cunha M, Guimaraes A, Ramos CO, Benedetti AFF, Leal A de C, Gagliardi PC, Antonini SRR, Gryngarten M, Arcari AJ, Abreu AP, Kaiser UB, Soriano-Guillen L, Escribano-Muñoz A, Corripio R, Labarta JI, Travieso-Suárez L, Ortiz-Cabrera NV, Argente J, Mendonca BB de, Brito VN de, Latronico AC. Genotype–phenotype correlations in central precocious puberty caused by MKRN3 mutations [Internet]. Journal of Clinical Endocrinology and Metabolism. 2021 ; 106( 4): 1041-1050.[citado 2025 dez. 26 ] Available from: https://doi.org/10.1210/clinem/dgaa955 -
Vancouver
Seraphim CE, Canton APM, Montenegro LR, Piovesan MR, Macedo DB, Cunha M, Guimaraes A, Ramos CO, Benedetti AFF, Leal A de C, Gagliardi PC, Antonini SRR, Gryngarten M, Arcari AJ, Abreu AP, Kaiser UB, Soriano-Guillen L, Escribano-Muñoz A, Corripio R, Labarta JI, Travieso-Suárez L, Ortiz-Cabrera NV, Argente J, Mendonca BB de, Brito VN de, Latronico AC. Genotype–phenotype correlations in central precocious puberty caused by MKRN3 mutations [Internet]. Journal of Clinical Endocrinology and Metabolism. 2021 ; 106( 4): 1041-1050.[citado 2025 dez. 26 ] Available from: https://doi.org/10.1210/clinem/dgaa955 - Loss-of-function mutations in a gene cause central precocius puberty
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- Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty
- Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination
- Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism
- Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line
- Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels
Informações sobre o DOI: 10.1210/clinem/dgaa955 (Fonte: oaDOI API)
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