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Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.
Alsters, Suzanne I M; Goldstone, Anthony P; Buxton, Jessica L; Zekavati, Anna; Sosinsky, Alona; Yiorkas, Andrianos M; Holder, Susan; Klaber, Robert E; Bridges, Nicola; van Haelst, Mieke M; le Roux, Carel W; Walley, Andrew J; Walters, Robin G; Mueller, Michael; Blakemore, Alexandra I F.
Affiliation
  • Alsters SI; Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom.
  • Goldstone AP; Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, United Kingdom; Centre for Neuropsychopharmacology and Computational, Cognitive and Clinical Neuroimaging Laboratory, Division of Brain Sciences, Department of Medicine, Imperial College London, H
  • Buxton JL; Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom; Centre for Cardiovascular Genetics, UCL Institute of Cardiovascular Science, London, United Kingdom.
  • Zekavati A; NIHR Imperial BRC Genomics Facility, Faculty of Medicine, Imperial College London, London, United Kingdom.
  • Sosinsky A; NIHR Imperial BRC Genomics Facility, Faculty of Medicine, Imperial College London, London, United Kingdom.
  • Yiorkas AM; Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom.
  • Holder S; NW Thames Regional Genetics Service, Kennedy Galton Centre, North West London Hospitals NHS Trust, Northwick Park Hospital, Harrow, United Kingdom.
  • Klaber RE; Department of Paediatrics, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, United Kingdom.
  • Bridges N; Department of Paediatric Endocrinology, Chelsea and Westminster Hospital, London, United Kingdom.
  • van Haelst MM; Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • le Roux CW; Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom; Diabetes Complications Research Centre, Conway Institute, School of Medicine and Medical Science, University College Dublin, Dublin, Irelan
  • Walley AJ; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, United Kingdom.
  • Walters RG; Clinical Trial Service Unit and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom.
  • Mueller M; NIHR Imperial BRC Genomics Facility, Faculty of Medicine, Imperial College London, London, United Kingdom.
  • Blakemore AI; Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom.
PLoS One ; 10(6): e0131417, 2015.
Article in En | MEDLINE | ID: mdl-26120850
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Obesity, Morbid / Carboxypeptidase H / Diabetes Mellitus, Type 2 / Klinefelter Syndrome / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: PLoS One Year: 2015 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Obesity, Morbid / Carboxypeptidase H / Diabetes Mellitus, Type 2 / Klinefelter Syndrome / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: PLoS One Year: 2015 Document type: Article