Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.

Objective The presence of FMF cases without MEFV (MEFV innate immunity regulator, pyrin) pathogenic variants led us to search for other genes' involvement in the disease development. Here, we describe the presence of genetic heterogeneity in a three-generation family with an FMF/mevalonate kinase de...

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Bibliographic Details

Published in:	Rheumatology Vol. 62; no. 9; pp. 3188 - 3197
Main Authors:	Önen, Merve Özkılınç, Onat, Umut İ, Uğurlu, Serdal, Timuçin, Ahmet C, Arslan, Devrim Öz, Everest, Elif, Özdoğan, Huri, Turanlı, Eda Tahir
Format:	pictorial research tables/charts Journal Article
Published:	Oxford University Press / USA Sep2023
Online Access:	View this record in EBSCOhost