Harms, Frederike L. http://orcid.org/0000-0003-2610-0600
Rexach, Jessica Erin
Efthymiou, Stephanie http://orcid.org/0000-0003-4900-9877
Aynekin, Busra
Per, Hüseyin
Güleç, Ayten http://orcid.org/0000-0002-4968-9326
Nampoothiri, Sheela http://orcid.org/0000-0002-9575-0722
Sampaio, Hugo
Sachdev, Rani
Stoeva, Radka http://orcid.org/0000-0002-6383-8201
Myers, Kasiani
Pena, Loren D. M.
Kalfa, Theodosia A. http://orcid.org/0000-0002-0426-9686
Chard, Marisa
Klassen, Megan
Pries, Megan
Kutsche, Kerstin http://orcid.org/0000-0001-8494-8963
Article History
Received: 7 July 2023
Revised: 30 January 2024
Accepted: 7 February 2024
First Online: 19 February 2024
Competing interests
: The authors declare no competing interests.
: Genetic studies were performed clinically (as approved by the Provincial Medical Genetics Program at Newfoundland and Labrador Health Services) or as approved by the local Institutional Review Board at University College London Hospitals (IRAS: 310045; REC: 22/NE/0080; London, United Kingdom), the Clinical Research Ethics Committee of the Erciyes University (2015/226; Kayseri, Turkey), and the Cincinnati Children’s Hospital Medical Center Institutional Review Board (CCHMC IRB# 2016–2727). Written informed consent for the publication of photographs was obtained for five subjects.