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Authors
Grelet, Maude
Blanck, Véronique
Sigaudy, Sabine
Philip, Nicole
Giuliano, Fabienne
Khachnaoui, Khaoula
Morel, Godelieve
Grotto, Sarah
Sophie, Julia
Poirsier, Céline
Lespinasse, James
Alric, Laurent
Calvas, Patrick
Chalhoub, Gihane
Layet, Valérie
Molin, Arnaud
Colson, Cindy
Marsili, Luisa
Edery, Patrick
Lévy, Nicolas
De Sandre-Giovannoli, Annachiara https://orcid.org/0000-0002-2324-2462
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Article History
Received: 17 May 2019
Accepted: 30 August 2019
First Online: 11 December 2019
Ethics approval and consent to participate
: This study fully complies with the European RGPD directive (n°2016/679): the use of genetic and clinical data issued from molecular genetics diagnostics procedures were validated from the Data Protection Officer of APHM (Assistance Publique des Hôpitaux de Marseille), in agreement with the European and French regulation.
: All the patients or the parents/legal guardians for minors, provided written informed consent for genetic analysis following the French regulation (L1131-1-1 Code de la Santé Publique). Specific consents for publication were additionally obtained from the patients or the parents / legal guardians of the minor patients whose clinical presentation is further developed in the article, namely including their pictures.
: The authors declare that they have no competing interests.
