ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects
Year: 2018
Type: article
Study design: Case Report
Source: Neuromuscular Disorders
Authors: Urielle Ullmann, Luigi D'Argenzio, Shrey Mathur, Tamieka Whyte, Ros Quinlivan, Cheryl Longman, Maria Elena Farrugia, Adnan Manzur, Tracey Willis, Heinz Jungbluth, Matthew Pitt, Sebahattin Cirak, Lucy Feng, William Stewart, Rachael Mein, Rahul Phadke, Caroline Sewry, Anna Sarkozy, Francesco Muntoni
Institutions: Great Ormond Street Hospital, Institute of Pathology and Genetics, University College London, National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, Queen Elizabeth University Hospital, Robert Jones and Agnes Hunt Orthopaedic Hospital, Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Trust, St Thomas' Hospital, King's College London, Guy's and St Thomas' NHS Foundation Trust, Evelina London Children's Healthcare, University of Cologne, University Hospital Cologne, University of Glasgow, Guy's Hospital, UCL Biomedical Research Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2810061717