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Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Atallah, Isis; Quinodoz, Mathieu; Campos-Xavier, Belinda; Peter, Virginie G; Fouriki, Athina; Bonvin, Christophe; Bottani, Armand; Kumps, Camille; Angelini, Federica; Bellutti Enders, Felicitas; Christen-Zaech, Stéphanie; Rizzi, Mattia; Renella, Raffaele; Beck-Popovic, Maja; Poloni, Claudia; Frossard, Valérie; Blouin, Jean-Louis; Rivolta, Carlo; Riccio, Orbicia; Candotti, Fabio; Hofer, Michael; Unger, Sheila; Superti-Furga, Andrea.
Afiliação
  • Atallah I; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
  • Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
  • Campos-Xavier B; Department of Ophthalmology, University of Basel, Basel, Switzerland.
  • Peter VG; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
  • Fouriki A; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
  • Bonvin C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
  • Bottani A; Department of Ophthalmology, University of Basel, Basel, Switzerland.
  • Kumps C; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
  • Angelini F; Pediatric Immunology Unit, Division of Pediatrics, Lausanne University Hospital, Lausanne, Switzerland.
  • Bellutti Enders F; Division of Neurology, Lausanne University Hospital, Lausanne, Switzerland.
  • Christen-Zaech S; Division of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
  • Rizzi M; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
  • Renella R; Pediatric Immunology Unit, Division of Pediatrics, Lausanne University Hospital, Lausanne, Switzerland.
  • Beck-Popovic M; Pediatric Immunology Unit, Division of Pediatrics, Lausanne University Hospital, Lausanne, Switzerland.
  • Poloni C; Pediatric Dermatology Unit, Lausanne University Hospital, Lausanne, Switzerland.
  • Frossard V; Pediatric Hemato-Oncology Unit, Lausanne University Hospital, Lausanne, Switzerland.
  • Blouin JL; Pediatric Hemato-Oncology Unit, Lausanne University Hospital, Lausanne, Switzerland.
  • Rivolta C; Pediatric Hemato-Oncology Unit, Lausanne University Hospital, Lausanne, Switzerland.
  • Riccio O; Pediatric Neurology Unit, Sion Hospital, Sion, Switzerland.
  • Candotti F; Hemato-Oncology Unit, Sion Hospital, Sion, Switzerland.
  • Hofer M; Division of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
  • Unger S; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
  • Superti-Furga A; Department of Ophthalmology, University of Basel, Basel, Switzerland.
Clin Genet ; 99(6): 780-788, 2021 06.
Article em En | MEDLINE | ID: mdl-33586135
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Serina Endopeptidases / Mutação da Fase de Leitura / Dipeptidil Peptidases e Tripeptidil Peptidases / Aminopeptidases / Síndromes de Imunodeficiência Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Serina Endopeptidases / Mutação da Fase de Leitura / Dipeptidil Peptidases e Tripeptidil Peptidases / Aminopeptidases / Síndromes de Imunodeficiência Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article