Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities (2022)
- Authors:
- USP affiliated authors: JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; XAVIER, ANA CLAUDIA LATRÔNICO - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- DOI: 10.1515/jpem-2021-0719
- Subjects: MUTAGÊNESE; DOENÇAS CONGÊNITAS; PEDIATRIA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Journal of pediatric endocrinology & metabolism
- ISSN: 0334-018X
- Volume/Número/Paginação/Ano: v. 35, n. 6, p. 831-835, 2022
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
GRIFFERO, Mariana et al. Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities. Journal of pediatric endocrinology & metabolism, v. 35, n. 6, p. 831-835, 2022Tradução . . Disponível em: https://doi.org/10.1515/jpem-2021-0719. Acesso em: 11 jun. 2024. -
APA
Griffero, M., Benedetti, A. F. F., Perez, M., Carvalho, L., Jorge, A. A. de L., Xavier, A. C. L., et al. (2022). Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities. Journal of pediatric endocrinology & metabolism, 35( 6), 831-835. doi:10.1515/jpem-2021-0719 -
NLM
Griffero M, Benedetti AFF, Perez M, Carvalho L, Jorge AA de L, Xavier ACL, Mendonca BB de, Arnhold I, Mericq V. Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities [Internet]. Journal of pediatric endocrinology & metabolism. 2022 ; 35( 6): 831-835.[citado 2024 jun. 11 ] Available from: https://doi.org/10.1515/jpem-2021-0719 -
Vancouver
Griffero M, Benedetti AFF, Perez M, Carvalho L, Jorge AA de L, Xavier ACL, Mendonca BB de, Arnhold I, Mericq V. Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities [Internet]. Journal of pediatric endocrinology & metabolism. 2022 ; 35( 6): 831-835.[citado 2024 jun. 11 ] Available from: https://doi.org/10.1515/jpem-2021-0719 - Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders
- Amplification of the Insulin-Like Growth Factor 1 Receptor Gene Is a Rare Event in Adrenocortical Adenocarcinomas: Searching for Potential Mechanisms of Overexpression
- Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay
- Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty
- Analysis of FGFR4 Locus amplification in pediatric and adult sporadic adrenocortical tumors
- The role of fibroblast growth factor receptor 4 overexpression and gene amplification as prognostic markers in pediatric and adult adrenocortical tumors [Carta]
- Analysis of major causative hypogonadotropic hypogonadism genes in patients with constitutional delay of growth and puberty
- Clinical and Genetic Characterization of Familial Central Precocious Puberty
- Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line
- Investigação genética
Informações sobre o DOI: 10.1515/jpem-2021-0719 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
