Applicability of the Curaçao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population.

Pahl, Kristy S; Choudhury, Arkopal; Wusik, Katie; Hammill, Adrienne; White, Andrew; Henderson, Katharine; Pollak, Jeffrey; Kasthuri, Raj S

Pahl, Kristy S; Choudhury, Arkopal; Wusik, Katie; Hammill, Adrienne; White, Andrew; Henderson, Katharine; Pollak, Jeffrey; Kasthuri, Raj S.

Afiliação

Pahl KS; Division of Pediatric Hematology and Oncology, University of North Carolina School of Medicine, Chapel Hill, NC.
Choudhury A; Department of Biostatistics, University of North Carolina-Chapel Hill, Chapel Hill, NC.
Wusik K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Hammill A; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Cancer and Blood Diseases Institute, Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
White A; Division of Pediatric Rheumatology, Washington University, St Louis, MO.
Henderson K; Department of Interventional Radiology, Yale University School of Medicine, New Haven, CT.
Pollak J; Department of Interventional Radiology, Yale University School of Medicine, New Haven, CT.
Kasthuri RS; Division of Hematology Oncology, University of North Carolina School of Medicine, Chapel Hill, NC.

J Pediatr ; 197: 207-213, 2018 06.

Article em En | MEDLINE | ID: mdl-29655863

Assuntos

Testes Genéticos/métodos; Telangiectasia Hemorrágica Hereditária/diagnóstico; Receptores de Activinas Tipo II/genética; Adolescente; Adulto; Criança; Pré-Escolar; Curaçao; Endoglina/genética; Feminino; Genótipo; Humanos; Lactente; Masculino; Mutação; Estudos Retrospectivos; Sensibilidade e Especificidade; Proteína Smad4/genética; Telangiectasia Hemorrágica Hereditária/genética; Adulto Jovem

Palavras-chave

arteriovenous malformation; pathogenic mutation; sensitivity; specificity

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária / Testes Genéticos Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País como assunto: Antillas holandesas / Caribe ingles Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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