Background Myotonic dystrophy type 1 (DM1) is a multisystem disorder with autosomal dominant inheritance, caused by the abnormal expansion of the CTG triplet in the DMPK gene. Biomarker discovery in ...
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 Heterozygous PURA (Purine-rich element-binding protein A) variants cause PURA syndrome, a neurodevelopmental disorder characterised by hypotonia, seizures and intellectual disability.
1 Department of Neurology, Guy’s and St Thomas’ Hospitals, London, UK 2 Department of Medical Genetics, St Mary’s Hospital, Manchester, UK 3 Department of Neurosurgery, Kings College Hospital, London, ...
Background Early detection of lung cancer to allow curative treatment remains challenging. Cell-free circulating tumour (ct) DNA (ctDNA) analysis may aid in malignancy assessment and early cancer ...
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 ...
Background Facioscapulohumeral muscular dystrophy 1 (FSHD1) is one of the most common autosomal dominant neuromuscular diseases. Genetic diagnosis of FSHD1 remains a challenge because of the long ...
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, ...
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; ...
Background Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We ...
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 ...
A 13 year old female presented with ambiguous external genitalia, right inguinal ovotestis, left ovary, apparently normal Mullerian system, and absent Wolffian system. Cultured lymphocytes showed a 46 ...
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