Pingault, Véronique https://orcid.org/0000-0001-7064-0765
Neiva-Vaz, Cécilia
de Oliveira, Judite
Martínez-Gil, Núria
Lasa-Aranzasti, Amaia
Campos, Berta https://orcid.org/0000-0002-4343-8331
Lakeman, Inge M. M. https://orcid.org/0000-0002-2990-7154
Nibbeling, Esther A. R. https://orcid.org/0000-0001-8818-3232
Stoeva, Radka https://orcid.org/0000-0002-6383-8201
Jayakar, Parul
Dabir, Tabib
Elloumi, Houda Zghal
Strong, Alanna
Hanein, Sylvain https://orcid.org/0000-0001-5817-6330
Picard, Arnaud
Ochsenbein, Francoise
Blanc, Pierre https://orcid.org/0009-0003-8965-7171
Amiel, Jeanne
Funding for this research was provided by:
AXA Research Fund
Article History
Received: 26 April 2024
Revised: 20 August 2024
Accepted: 19 September 2024
First Online: 27 September 2024
Competing interests
: There is no competing interest. HZE is an employee of GeneDx, LLC, USA.
: These studies have been approved by institutional committees in each country when performed on a research basis. Ethical approvement was not required for case reports based on analysis performed in diagnostic conditions. Consent for publication of photos was obtained.