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Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.
Griffero, Mariana; Benedetti, Anna Flavia Figueredo; Pérez, Marcela; Carvalho, Luciani; Jorge, Alexander; Latronico, Ana Claudia; Mendonca, Berenice; Arnhold, Ivo; Mericq, Verónica.
Affiliation
  • Griffero M; Institute of Maternal and Child Research (IDIMI), Faculty of Medicine, University of Chile, Santiago, Chile.
  • Benedetti AFF; Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
  • Pérez M; Department of Ophthalmology, Clínica Las Condes and Hospital Salvador, Santiago, Chile.
  • Carvalho L; Disciplina de Endocrinologia e Metabologia, Departamento de Clinica Medica, LIM/42, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
  • Jorge A; Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
  • Latronico AC; Disciplina de Endocrinologia e Metabologia, Departamento de Clinica Medica, LIM/42, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
  • Mendonca B; Disciplina de Endocrinologia e Metabologia, Departamento de Clinica Medica, LIM/42, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
  • Arnhold I; Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
  • Mericq V; Disciplina de Endocrinologia e Metabologia, Departamento de Clinica Medica, LIM/42, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
J Pediatr Endocrinol Metab ; 35(6): 831-835, 2022 Jun 27.
Article in En | MEDLINE | ID: mdl-35320640
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Abnormalities / Hypopituitarism Type of study: Risk_factors_studies Limits: Humans Language: En Journal: J Pediatr Endocrinol Metab Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2022 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Abnormalities / Hypopituitarism Type of study: Risk_factors_studies Limits: Humans Language: En Journal: J Pediatr Endocrinol Metab Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2022 Document type: Article Affiliation country: