Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA Correspondence to: Dr V P Sybert, Box 356524, Division of Dermatology, University of Washington School of Medicine ...

Correspondence to Dr A Barco, Instituto de Neurociencias de Alicante (Universidad Miguel Hernández-Consejo Superior de Investigaciones Científicas), Campus de Sant Joan, Apt. 18, Sant Joan d'Alacant ...

OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a ...

4 Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK 5 Research School for Cardiovascular Diseases in ...

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada Results: A novel germline CDH1 truncating mutation in the extracellular portion of ...

Purpose Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is ...

Correspondence to Professor D Gareth Evans, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, St Mary’s Hospital, University of Manchester, Manchester M13 9WL, UK; ...

Background Tuberous sclerosis complex (TSC) is a genetic disease characterised by the growth of benign tumours. The Tuberous sclerosis Associated Neuropsychiatric Disorders (TAND) Checklist is used to ...

Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...

Background Until recently, determining penetrance required large observational cohort studies. Data from the Exome Aggregate Consortium (ExAC) allows a Bayesian approach to calculate penetrance, in ...

3 Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, New South Wales, Australia ...

Professor B Franco, Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy; franco{at}tigem.it If you wish to reuse any ...