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

doi:10.1007/s10875-022-01344-z

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 journal › Comment/Letter to the editor › Academic › peer-review

3 Citations (Scopus)

36 Downloads (Pure)

Original language	English
Pages (from-to)	69-71
Number of pages	3
Journal	Journal of Clinical Immunology
Volume	43
Issue number	1
Early online date	30 Aug 2022
DOIs	https://doi.org/10.1007/s10875-022-01344-z
Publication status	Published - 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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title = "A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation",

author = "{van Wijck}, {Rogier T. A.} and Swagemakers, {Sigrid M. A.} and {van der Spek}, {Peter J.} and {van Hagen}, {P. Martin} and {van Daele}, {Paul L. A.}",

note = "Funding Information: We would like to thank Prof. Dr. Ton W. Langerak for performing the Sanger sequencing of the variants in the index{\textquoteright}s sister. We also would like to thank Dr. Arjan M. Bouman for his description of facial dysmorphic features.",

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AU - van der Spek, Peter J.

AU - van Hagen, P. Martin

AU - van Daele, Paul L. A.

N1 - 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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M3 - Comment/Letter to the editor

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

Bibliographical note

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