Swinkels, Hilde
Leferink, Maike
Pennings, Maartje https://orcid.org/0000-0001-5485-7497
van der Sanden, Bart https://orcid.org/0000-0003-0546-1351
Gilissen, Christian https://orcid.org/0000-0003-1693-9699
Galbany, Jordi Corominas
Kamsteeg, Erik-Jan https://orcid.org/0000-0001-6480-1892
Article History
Received: 12 December 2024
Revised: 18 June 2025
Accepted: 23 June 2025
First Online: 8 July 2025
Competing interests
: The authors declare no competing interests.
: Diagnostic laboratories can use (de-identified) samples from archived clinical samples to validate and optimize diagnostic assays. Therefore, the individuals in the pedigrees are shown without information about age or other identifiers. Where necessary, the sex is shown, other individuals are indicated by diamonds. These methods are also in accordance with relevant guidelines and regulations and approved by the institutional review board of the Radboud University Medical Center (2020-7142) and the Declaration of Helsinki.