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Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.
Uchiyama, Yuri; Kim, Chong A; Pastorino, Antonio Carlos; Ceroni, José; Lima, Patricia Picciarelli; de Barros Dorna, Mayra; Honjo, Rachel Sayuri; Bertola, Débora; Hamanaka, Kohei; Fujita, Atsushi; Mitsuhashi, Satomi; Miyatake, Satoko; Takata, Atsushi; Miyake, Noriko; Mizuguchi, Takeshi; Matsumoto, Naomichi.
Afiliación
  • Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Kim CA; Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Pastorino AC; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Ceroni J; Children's Institute, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Lima PP; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • de Barros Dorna M; Patologia Ocular, Divisão de Anatomia Patologica, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Honjo RS; Children's Institute, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Bertola D; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Hamanaka K; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mitsuhashi S; 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; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
J Hum Genet ; 64(9): 955-960, 2019 Sep.
Article en En | MEDLINE | ID: mdl-31213653
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Transducción de Señal / Discapacidades del Desarrollo / Proteína Serina-Treonina Quinasas de Interacción con Receptores / Mutación con Pérdida de Función / Enfermedades de Inmunodeficiencia Primaria / Homocigoto / Enfermedades Intestinales Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Transducción de Señal / Discapacidades del Desarrollo / Proteína Serina-Treonina Quinasas de Interacción con Receptores / Mutación con Pérdida de Función / Enfermedades de Inmunodeficiencia Primaria / Homocigoto / Enfermedades Intestinales Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Japón