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Novel SUZ12 mutations in Weaver-like syndrome.
Imagawa, Eri; Albuquerque, Edoarda V A; Isidor, Bertrand; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Miyatake, Satoko; Takata, Atsushi; Miyake, Noriko; Boguszewski, Margaret C S; Boguszewski, César L; Lerario, Antonio M; Funari, Mariana A; Jorge, Alexander A L; Matsumoto, Naomichi.
Afiliación
  • Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Albuquerque EVA; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
  • Isidor B; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Nantes, France.
  • Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Boguszewski MCS; Department of Pediatrics, Federal University of Paraná, Curitiba, Brazil.
  • Boguszewski CL; Department of Internal Medicine, Endocrine Division (SEMPR), Federal University of Paraná, Curitiba, Brazil.
  • Lerario AM; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
  • Funari MA; Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan.
  • Jorge AAL; Laboratorio de Hormonios e Genetica Molecular (LIM/42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
  • Matsumoto N; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
Clin Genet ; 94(5): 461-466, 2018 11.
Article en En | MEDLINE | ID: mdl-30019515

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Deformidades Congénitas de la Mano / Anomalías Craneofaciales / Predisposición Genética a la Enfermedad / Hipotiroidismo Congénito / Estudios de Asociación Genética / Complejo Represivo Polycomb 2 / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Japón

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Deformidades Congénitas de la Mano / Anomalías Craneofaciales / Predisposición Genética a la Enfermedad / Hipotiroidismo Congénito / Estudios de Asociación Genética / Complejo Represivo Polycomb 2 / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Japón