Background Heterozygous PURA (Purine-rich element-binding protein A) variants cause PURA syndrome, a neurodevelopmental disorder characterised by hypotonia, seizures and intellectual disability.
2 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada 3 Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, ...
Background Caring for children with pathogenic neurodevelopmental Copy Number Variants (CNVs) (ie, deletions and duplications of genetic material) can place a considerable burden on parents and their ...
aDepartment of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK, bPrimary Care and Population Sciences, University College Medical School, Royal Free Campus, Rowland Hill Street, ...
Background Autosomal dominant (AD) inheritance often arises through haploinsufficiency, dominant-negative or gain of function (GoF) effects, while autosomal recessive (AR) inheritance generally ...
1 Institut de Génétique et du Biologie Moleculaire et Cellulaire, CNRS INSERM, Université Louis Pasteur, Illkirch, CU de Strasbourg, France 2 Department of Clinical Genetics, Leicester Royal Infirmary ...
Professor R C Trembath, Division of Genetics and Molecular Medicine, King’s College School of Medicine, 9th Floor Guy’s Tower, Guy’s Hospital, SE1 9RT London, UK; ...
Correspondence to Dr Wendy Chung, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; wkc15{at}cumc.columbia.edu Background SLC6A1 encodes GAT-1, a major ...
1 Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan 2 Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan Correspondence to ...
Background Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We ...
Correspondence to: Dr S Mansour, South-West Thames Regional Genetic Service, St George’s Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, UK; smansour{at}sghms.ac.uk Five patients ...
A search for patterns of malformation in the brachydactylies has resulted in new ways to identify the different types. Type A-1 can be characterised by a proportionate reduction of the middle ...
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