Sequeira, Angèle https://orcid.org/0000-0003-1103-2158
Sagardoy, Thomas
Bourgeade, Laetitia
Lacombe, Didier
Sarrazin, Elizabeth
Toutain, Annick
Rooryck, Caroline https://orcid.org/0000-0002-9789-3591
Article History
Received: 4 September 2024
Revised: 9 January 2025
Accepted: 13 March 2025
First Online: 24 March 2025
Competing interests
: The authors declare no competing interests.
: The local ethics committee (Comité de Protection des Personnes: DC2012/76) approved this study. Informed consent was obtained from the patients and/or their parents in the case of minors before genetic analysis was performed. Authorization for publication, including the publication of photographs, was obtained for patients 1.IV.4 and 2.II.3.