Affiliation: | 1. Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Crumlin, Dublin, Ireland;2. Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland;3. National Rare Diseases Office, Mater Misericordiae Hospital, Dublin, Ireland;4. Department of Clinical Genetics and University College Dublin School of Medicine and Medical Sciences, Our Lady's Children's Hospital Crumlin, Crumlin, Dublin, Ireland;5. Academic Centre on Rare Diseases, University College Dublin School of Medicine and Medical Sciences, Belfield, Dublin, Ireland |