Rahikkala, Elisa http://orcid.org/0000-0003-2760-7059
Julku, Johanna http://orcid.org/0000-0003-4777-3943
Koskinen, Sari
Keski-Filppula, Tommi
Weissgraeber, Stephanie http://orcid.org/0000-0001-5013-4806
Bertoli-Avella, Aida M. http://orcid.org/0000-0001-9544-1877
Häkli, Sanna
Kraatari-Tiri, Minna http://orcid.org/0000-0002-8072-699X
Funding for this research was provided by:
Academy of Finland (338446)
Uolevi Mäki Foundation and the Competitive State Research Financing of the Expert Responsibility Area of Oulu University Hospital
Article History
Received: 28 August 2022
Revised: 30 October 2022
Accepted: 24 November 2022
First Online: 13 December 2022
Competing interests
: SW, AMBA are employees of CENTOGENE GmbH. The authors declare no conflicts of interest.
: Written informed consent was obtained from all the patients and unaffected siblings participating in the study. Written informed consent was obtained to publish patient photos. The study was approved by the Ethics Committee of the Northern Ostrobothnia Hospital District (Eettmk § 186, 17/08/2020).