Cascajo-Almenara, Marivi V.
Juliá-Palacios, Natalia.
Urreizti, Roser http://orcid.org/0000-0003-3617-7134
Sánchez-Cuesta, Ana
Fernández-Ayala, Daniel M.
García-Díaz, Elena http://orcid.org/0000-0003-1881-6908
Oliva, Clara
O´Callaghan, Maria del Mar
Paredes-Fuentes, Abraham J. http://orcid.org/0000-0002-7163-2385
Moreno-Lozano, Pedro J. http://orcid.org/0000-0002-5501-5272
Muchart, Jordi
Nascimento, Andres
Ortez, Carlos I.
Natera-de Benito, Daniel http://orcid.org/0000-0001-7764-2085
Pineda, Mercedes
Rivera, Noelia
Fortuna, Tyler R.
Rajan, Deepa S.
Navas, Plácido http://orcid.org/0000-0002-4115-7966
Salviati, Leonardo http://orcid.org/0000-0001-5642-9963
Palau, Francesc http://orcid.org/0000-0002-8635-5421
Yubero, Delia
García-Cazorla, Angels
Pandey, Udai Bhan http://orcid.org/0000-0002-6267-0179
Santos-Ocaña, Carlos http://orcid.org/0000-0002-2379-796X
Artuch, Rafael http://orcid.org/0000-0002-3422-9685
Funding for this research was provided by:
Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (PI20-00340, PI20/00541, PI20/00541, PI20/00541)
Article History
Received: 5 July 2023
Revised: 23 October 2023
Accepted: 14 December 2023
First Online: 5 February 2024
Competing interests
: The authors declare no competing interests.
: All patients provided the informed consent for the genetic studies and skin biopsies collection. For supplementary videos, consent from patient 1 <b>(P1)</b> was obtained. For patient 2 <b>(P2)</b>, the family refused to provide informed consent to publish the video. The study was conducted following the Declaration of Helsinki, and the ethical committee of the institution of Sant Joan de Déu Hospital has approved it.