Funding for this research was provided by:
Instituto de Salud Carlos III (PI14/01162, CP08/00027, PI14/00136, PI17/00534, CPII14/00029, PI17/00572)
Comunidad de Madrid (S2017/BMD-3721-RAREGENOMICS-CM)
Text and Data Mining valid from 2019-08-28
Received: 5 March 2019
Accepted: 18 August 2019
First Online: 28 August 2019
Ethics approval and consent to participate
: This study was conducted according to the ethical principles for medical research involving human subjects according to the Declaration of Helsinki. Written informed consents were obtained for all individuals included in the study, which was approved by the Ethical Committees of the Hospital Universitario Ramón y Cajal (Madrid) and the University Hospital Germans Trias i Pujol (HUGTiP) in Badalona.
: Consent for publication was obtained from the three affected subjects of family SH19.
: The authors declare that they have no competing interests.