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

doi:10.1016/j.jpeds.2018.01.079

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Article

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

The Journal of pediatrics - 1 Jun 2018

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

Abstract excerpt

OBJECTIVE: To evaluate the accuracy of the clinical Curaçao criteria in the diagnosis of hereditary hemorrhagic telangiectasia (HHT) in children and adolescents. STUDY DESIGN: This was a retrospective, multicenter chart review of 673 patients evaluated between 2002 and 2016; 290 were eligible for the study. Genetic testing for a pathogenic mutation was considered the gold standard against which the clinical...

Topics

Activin Receptors, Type II
Adolescent
Adult
Child
Child, Preschool
Curacao
Endoglin
Female
Genetic Testing
Genotype
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Male

Mutation

Retrospective Studies

Sensitivity and Specificity

Smad4 Protein

Telangiectasia, Hereditary Hemorrhagic

Source

Open in PubMed

Identifiers

PMID: 29655863
DOI: 10.1016/j.jpeds.2018.01.079

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