Funding for this research was provided by:
Agencia Estatal de Investigación (RTI2018-094434-B-I00, RTC-2017-6494-1, SAF2016-75744-R, PID2019-105610RB-I00)
Consejería de Educación, Junta de Castilla y León (CSI264P20, CLC-2017-01)
Departament de Salut, Generalitat de Catalunya (SLT002/16/00174)
Received: 17 November 2020
Accepted: 26 January 2021
First Online: 8 February 2021
Ethics approval and consent to participate
: All participants were provided with an explanation of the genetic study research, and written informed consent for the diagnostic genetic study was obtained from the parents of the affected child. The genomic diagnostic study was approved by the ethics committee of the Hospital Universitario de Salamanca and Hospital Sant Joan de Deu.
: Written informed consent for publication was obtained from the participant’s legal guardian/next of kin.
: The authors declare they have no competing interests.