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Whole exome sequencing of a German sarcoidosis family with four affected and one spontaneous remission case.

Rheumatology (Oxford, England) - 3 May 2024

Kvacskay Peter, El Jammal Thomas, Lorenz Hanns-Martin, Pacheco Yves, Calender Alain

Abstract excerpt

OBJECTIVES: To analyse genetic mechanisms triggering familial sarcoidosis, whole exome screening of a family of six persons with four cases of sarcoidosis and two healthy controls was performed integrating progressive and spontaneous remission cases and evaluating involved genetic alterations that could potentially determine the individual course of the disease. METHODS: Clinical diagnostic criteria in patients...

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PMID: 37478346
DOI: 10.1093/rheumatology/kead349

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