Correspondence to Professor Johannes Häberle, Division of Metabolism, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich 8032, Switzerland; Johannes.haeberle{at}kispi.uzh.ch Background ...

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1 National Human Genome Research Institute, National Institutes of Health, Bldg 49, Room 4B75, 49 Convent Drive, Bethesda, MD 20892-4472, USA 2 Department of Medical Genetics, Children’s National ...

Correspondence to R F Kooy, Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium; Frank.Kooy{at}ua.ac.be Fragile X syndrome, the main cause of inherited ...

1 Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland 2 Department of Pediatric Neurology, Hospital for Children and Adolescents, Helsinki ...

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 Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to ...

Multiple endocrine neoplasia type 2B (MEN 2B), or the mucosal neuroma syndrome, is an autosomal dominant hamartoneoplastic syndrome. Features include multiple mucosal neuromas, phaeochromocytoma, ...

Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with ...

2 Division of Hematology and Medical Oncology, Vanderbilt University Medical Center, Nashville, TN, USA 3 Division of Allergy/Pulmonary and Critical Care, Vanderbilt University Medical Center, ...

Department of Psychological Medicine, The Henry Wellcome Building for Biomedical Research in Wales, Wales School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK Correspondence to: ...

3 Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Canada Correspondence to Dr Nada Jabado, Montreal Children's Hospital Research Institute, 4060 Ste Catherine ...