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Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.
Magnotto, John C; Mancini, Alessandra; Bird, Keisha; Montenegro, Luciana; Tütüncüler, Filiz; Pereira, Sidney A; Simas, Vitoria; Garcia, Leonardo; Roberts, Stephanie A; Macedo, Delanie; Magnuson, Melissa; Gagliardi, Priscila; Mauras, Nelly; Witchel, Selma F; Carroll, Rona S; Latronico, Ana Claudia; Kaiser, Ursula B; Abreu, Ana Paula.
Afiliação
  • Magnotto JC; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Mancini A; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Bird K; Division of Endocrinology, Diabetes, and Metabolism, Nemours Children's Health, Jacksonville, FL 32207, USA.
  • Montenegro L; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brazil.
  • Tütüncüler F; Department of Pediatrics and Pediatric Endocrinology Unit, Trakya University Faculty of Medicine, Edirne 22030, Turkey.
  • Pereira SA; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Simas V; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Garcia L; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Roberts SA; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Macedo D; Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Magnuson M; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Gagliardi P; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Mauras N; Division of Endocrinology, Diabetes, and Metabolism, Nemours Children's Health, Jacksonville, FL 32207, USA.
  • Witchel SF; Division of Endocrinology, Diabetes, and Metabolism, Nemours Children's Health, Jacksonville, FL 32207, USA.
  • Carroll RS; Pediatric Endocrinology, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, PA 15224, USA.
  • Latronico AC; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Kaiser UB; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brazil.
  • Abreu AP; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
J Clin Endocrinol Metab ; 108(7): 1646-1656, 2023 06 16.
Article em En | MEDLINE | ID: mdl-36916482
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Puberdade Precoce / Mutação de Sentido Incorreto Tipo de estudo: Risk_factors_studies Limite: Child / Female / Humans / Male Idioma: En Revista: J Clin Endocrinol Metab Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Puberdade Precoce / Mutação de Sentido Incorreto Tipo de estudo: Risk_factors_studies Limite: Child / Female / Humans / Male Idioma: En Revista: J Clin Endocrinol Metab Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos