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Article

Rheumatological manifestations in inborn errors of immunity.

Pediatric research - 1 Jan 2020

Köstel Bal Sevgi, Pazmandi Julia, Boztug Kaan, Özen Seza

Abstract excerpt

Rare monogenetic diseases serve as natural models to dissect the molecular pathophysiology of the complex disease traits. Rheumatologic disorders by their nature are considered complex diseases with partially genetic origin, as illustrated by their heterogeneous genetic background and variable phenotypic presentation. Recent advances in genetic technologies have helped uncover multiple variants associated with...

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PMID: 31581173
DOI: 10.1038/s41390-019-0600-8

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