Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Free Communications


Novel SOX2 Mutation: Identification of New Molecular Mechanisms of SOX2 Action and Interactions
aDevelopmental Endocrinology Research Group, UCL Institute of Child Health, London, UK; bNeural Development Unit, UCL Institute of Child Health, London, UK; cDevelopmental Biology Unit, Ulverscroft Vision Research Group, UCL Institute of Child Health, London, UK; dSection of Endocrinology, Diabetes and Metabolism, Department of Medicine, The Medical College of Georgia, Augusta, USA
Early-Onset Central Diabetes Insipidus is Associated with De Novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations
aDepartment of Pediatrics, Istituto Giannina Gaslini, Genoa, Italy; bUniversity of Genoa, Genoa, Italy; cDipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Second University of Naples, Naples, Italy; dDepartment of Biochemistry, Biophysics, and General Pathology, Second University of Naples, Naples, Italy; eUnit of Endocrinology and Diabetology, Bambino Gesù Children’s Hospital, Rome, Italy; fPediatric Endocrinology Unit, Department of Translational Medical Sciences, University ‘Federico II’ of Naples, Naples, Italy
Endocrine Features of a Large Cohort of Children with Septo-Optic Dysplasia and Congenital Multiple Pituitary Hormonal Deficiencies
London Centre for Paediatric Endocrinology and Diabetes, University College London and Great Ormond Street Hospitals, London, UK
Clinical and Neuroradiological Characteristics in Children and Adolescents with Septo-Optic Dysplasia, Multiple Pituitary Hormone Deficiencies and Optic Nerve Hypoplasia: Experience from a Single Tertiary Centre
aDepartment of Endocrinology, Great Ormond Street Hospital for Children, London, UK; bPaediatrics and Adolescent Service, University College London Hospital, London, UK; cStatistics Department, Institute for Child Health, London, UK; dDevelopmental Endocrinology Research Group, Epigenetics and Genetics in Health and Disease Section, Genomics and Genetic Medicine Programme, London, UK