A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation

Rogier T. A. van Wijck, Sigrid M. A. Swagemakers, Peter J. van der Spek, P. Martin van Hagen, Paul L. A. van Daele*

*Corresponding author for this work

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

2 Citations (Scopus)
16 Downloads (Pure)
Original languageEnglish
Pages (from-to)69-71
Number of pages3
JournalJournal of Clinical Immunology
Volume43
Issue number1
Early online date30 Aug 2022
DOIs
Publication statusPublished - Jan 2023

Bibliographical note

Funding Information:
We would like to thank Prof. Dr. Ton W. Langerak for performing the Sanger sequencing of the variants in the index’s sister. We also would like to thank Dr. Arjan M. Bouman for his description of facial dysmorphic features.

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