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Authors
Quinodoz, Mathieu https://orcid.org/0000-0002-9841-4433
Rutz, Sonja
Peter, Virginie https://orcid.org/0000-0001-8157-9568
Garavelli, Livia
Innes, A Micheil https://orcid.org/0000-0001-9881-5467
Lehmann, Elena F https://orcid.org/0000-0002-6112-933X
Kellenberger, Stephan https://orcid.org/0000-0003-1755-6198
Peng, Zhong
Barone, Angelica
Campos-Xavier, Belinda https://orcid.org/0000-0002-6271-0724
Unger, Sheila
Rivolta, Carlo https://orcid.org/0000-0002-0733-9950
Dutzler, Raimund https://orcid.org/0000-0002-2193-6129
Superti-Furga, Andrea https://orcid.org/0000-0002-3543-7531
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Funding
Funding for this research was provided by:
Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (310030_204373)
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Article History
Received: 2 April 2024
Revised: 23 August 2024
Accepted: 8 November 2024
First Online: 2 December 2024
Disclosure and competing interests statement
: The parents of the two patients in this study have been fully informed that the images shown would be used in a scientific research publication, and that the children will be fully identifiable in this publication, and given their consent. Showing such identifiable patient photographs is necessary for future clinical diagnosis in other affected children of the monoallelic variants of the LRRC8C gene similar to those reported here. We thankfully acknowledge the graciousness and generosity of the parents in giving this consent in the interest of helping future diagnoses in other affected children and in fostering knowledge about and research in this condition. The authors declare no competing interests.
