Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant (2022)
- Authors:
- USP affiliated authors: JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; ROSEMBERG, SERGIO - FM
- Unidade: FM
- DOI: 10.20945/2359-3997000000428
- Subjects: GENÉTICA HUMANA; MUTAÇÃO GENÉTICA; HORMÔNIOS HIPOFISÁRIOS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Rio de Janeiro, Rj
- Date published: 2022
- Source:
- Título: Archives of endocrinology metabolism
- ISSN: 2359-3997
- Volume/Número/Paginação/Ano: v. 66, n. 1, p. 104-111, 2022
- Este artigo possui versão em acesso aberto
- URL de acesso aberto
- PDF de acesso aberto
- Versão do Documento: Versão publicada (Published version)
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Status: Artigo publicado em periódico de acesso aberto (Gold Open Access) -
ABNT
LABELLO, Julia Haddad et al. Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant. Archives of endocrinology metabolism, v. 66, n. 1, p. 104-111, 2022Tradução . . Disponível em: https://doi.org/10.20945/2359-3997000000428. Acesso em: 17 mar. 2026. -
APA
Labello, J. H., Benedetti, A. F. F., Azevedo, B. V., Jorge, A. A. de L., Cescato, V. A. S., Rosemberg, S., et al. (2022). Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant. Archives of endocrinology metabolism, 66( 1), 104-111. doi:10.20945/2359-3997000000428 -
NLM
Labello JH, Benedetti AFF, Azevedo BV, Jorge AA de L, Cescato VAS, Rosemberg S, Frasseto FP, Arnhold IJP, Carvalho LRS de. Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant [Internet]. Archives of endocrinology metabolism. 2022 ; 66( 1): 104-111.[citado 2026 mar. 17 ] Available from: https://doi.org/10.20945/2359-3997000000428 -
Vancouver
Labello JH, Benedetti AFF, Azevedo BV, Jorge AA de L, Cescato VAS, Rosemberg S, Frasseto FP, Arnhold IJP, Carvalho LRS de. Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant [Internet]. Archives of endocrinology metabolism. 2022 ; 66( 1): 104-111.[citado 2026 mar. 17 ] Available from: https://doi.org/10.20945/2359-3997000000428 - The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
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