The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics.

Vogel, Nicole; Schmugge, Markus; Renella, Raffaele; Waespe, Nicolas; Hengartner, Heinz

Vogel, Nicole; Schmugge, Markus; Renella, Raffaele; Waespe, Nicolas; Hengartner, Heinz.

Afiliação

Vogel N; Department of Pediatrics, Cantonal Hospital Graubuenden, Chur, Switzerland.
Schmugge M; University Children's Hospital, Zurich, Switzerland.
Renella R; Department of Pediatrics, Lausanne University Hospital CHUV, Lausanne, Switzerland.
Waespe N; Childhood Cancer Research Group, Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Hengartner H; Research Platform for Pediatric Oncology and Hematology (CANSEARCH Research Platform), Faculty of Medicine, University of Geneva, Geneva, Switzerland.

Eur J Pediatr ; 180(12): 3581-3585, 2021 Dec.

Article em En | MEDLINE | ID: mdl-34110484

Assuntos

Anemia de Diamond-Blackfan; Anemia de Diamond-Blackfan/diagnóstico; Anemia de Diamond-Blackfan/genética; Criança; Genótipo; Humanos; Mutação; Fenótipo; Estudos Retrospectivos; Proteínas Ribossômicas/genética; Suíça/epidemiologia

Palavras-chave

Bone marrow failure disorders; Diamond-Blackfan anemia,; Genotype,; Neonatal anemia,; Phenotype,

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anemia de Diamond-Blackfan Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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