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Mutations in hepatocyte nuclear factor-1β and their related phenotypes

Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK Correspondence to: Professor Andrew T Hattersley Diabetes and Vascular Medicine, Peninsula Medical School, Barrack ...
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Is growth hormone treatment beneficial or harmful in Costello syndrome?

1 Regional Genetic Service and University Department of Medical Genetics, Central Manchester and Manchester Children’s University Hospitals NHS Trust, Manchester, UK 2 Department of Endocrinology, ...
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Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

1 Nuffield Department of Obstetrics and Gynaecology, University of Oxford, The Women's Centre, John Radcliffe Hospital, Oxford, UK 2 Department of Clinical Neuroscience, King's College Hospital, ...
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Clinical and genetic studies of Birt-Hogg-Dubé syndrome

Correspondence to: Professor S Richard, Génétique Oncologique EPHE, Faculté de Médecine Paris-Sud, 94276 Le Kremlin Bicêtre, France; stephane.richard{at}kb.u-psud.fr One three generation BHD kindred ...
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MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes

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 ...