FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6

Affiliations

• ¹ Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
• ² Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.
• ³ Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury SP2 8BJ, UK.
• ⁴ Human Technopole, Milan 20157, Italy.
• ⁵ Genomics England, London E14 5AB, UK.
• ⁶ Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK.
• ⁷ John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.
• ⁸ Paediatric Neuromuscular Disease Unit, Leeds Teaching Hospitals Trust, Leeds LS1 3EX, UK.
• ⁹ West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham B15 2TG, UK.
• ¹⁰ West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK.
• ¹¹ Muscle Team, Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Oswestry, Shropshire SY10 7AG, UK.
• ¹² RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter EX2 5DW, UK.