Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases
Author
Demirkol, Yasemin Kendir
Ayaz, Nuray
Karadag, Serife Gul
Dogan, Ozlem Akgun
Doganay, Hamdi Levent
Sozeri, Betul
Demir, Ferhat
SÖNMEZ, HAFİZE EMİNE
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Introduction/objectives The clinicians initially prefer to define patients with the systemic autoinflammatory disease (SAID)'s based on recommended clinical classification criteria; then, they confirm the diagnosis with genetic testing. We aimed to compare the initial phenotypic diagnoses of the patients who were followed up with the preliminary diagnosis of a monogenic SAID, and the genotypic results obtained from the next-generation sequence (NGS) panel.
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