Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR (2019)
- Authors:
- USP affiliated authors: MENDONÇA, BERENICE BILHARINHO DE - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1530/EC-19-0085
- Subjects: HORMÔNIOS DA ADENO-HIPÓFISE; DOENÇAS CONGÊNITAS; SEQUENCIAMENTO GENÉTICO
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Endocrine connections
- ISSN: 2049-3614
- Volume/Número/Paginação/Ano: v. 8, n. 5, p. 590-595, 2019
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
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ABNT
NAKAGUMA, Marilena et al. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR. Endocrine connections, v. 8, n. 5, p. 590-595, 2019Tradução . . Disponível em: https://doi.org/10.1530/EC-19-0085. Acesso em: 23 jan. 2026. -
APA
Nakaguma, M., Correa, F. A., Santana, L. S., Benedetti, A. F. F., V, R. P., Huayllas, M. K. P., et al. (2019). Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR. Endocrine connections, 8( 5), 590-595. doi:10.1530/EC-19-0085 -
NLM
Nakaguma M, Correa FA, Santana LS, Benedetti AFF, V RP, Huayllas MKP, Miras MB, Funari MFA, Lerario AM, Mendonça BB de, Jorge AA de L. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR [Internet]. Endocrine connections. 2019 ; 8( 5): 590-595.[citado 2026 jan. 23 ] Available from: https://doi.org/10.1530/EC-19-0085 -
Vancouver
Nakaguma M, Correa FA, Santana LS, Benedetti AFF, V RP, Huayllas MKP, Miras MB, Funari MFA, Lerario AM, Mendonça BB de, Jorge AA de L. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR [Internet]. Endocrine connections. 2019 ; 8( 5): 590-595.[citado 2026 jan. 23 ] Available from: https://doi.org/10.1530/EC-19-0085 - Usefulness of MLPA in the detection of SHOX deletions
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Informações sobre o DOI: 10.1530/EC-19-0085 (Fonte: oaDOI API)
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