ESPE Abstracts

^aINSERM U1169, Hôpital Bicêtre, University Parus Sud, Le Kremlin-Bicêtre, France; ^bEA 2496, UFR Odontologie, University Paris Descartes, Montrouge, France; ^cINSERM U970, University Paris Descartes, Paris, France

^aUniversity Children’s Hospital, Heidelberg, Germany; ^bVisiana, Holte, Denmark

^aHans Christian Andersen Children’s Hospital, Odense University Hospital, University of Southern Denmark, Odense C, Denmark; ^bEnvironmental Medicine, Odense University Hospital, University of Southern Denmark, Odense C, Denmark

^aReference Center for Rare Disorders of the Mineral Metabolism, Le Kremlin Bicêtre, France; ^bPlatform of Expertise for Rare Diseases Paris-Sud, Le Kremlin Bicêtre, France; ^cReference Center for Biliary Atresia Disorder, Le Kremlin Bicêtre, France

^aDevelopmental Endocrinology Research Group The Royal Hospital for Children, Glasgow, UK; ^bPaediatric Neurosciences Research Group The Royal Hospital for Children, Glasgow, UK; ^cWest of Scotland Genetic Services Queen Elizabeth University Hospital, Glasgow, UK; ^dThe Department of Paedaitrcics Forth Valley Royal Hospital, Stirling, UK; ^eThe Department of Paediatric Neurology The Royal Hopistal for Sick Children, Edinburgh, UK; ^fRainbow House Ayrshire Central Hospital, Ayrshire, UK; ^gArmitstead Child Development Centre King’s Cross Hospital/Ninewells Hospital, Dundee, UK; ^hThe Royal Aberdeen Children’s Hospital, Aberdeen, UK; ⁱThe Department of Paediatrics Raigmore Hospital, Inverness, UK

^aDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan; ^bDepartment of Plastic and Reconstructive Surgery, Keio University School of Medicine, Tokyo, Japan; ^cDepartment of Radiology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan

Department of Paediatrics, Charles University in Prague and Motol University Hospital, Prague, Czech Republic

Karolinska Institutet, Stockholm, Sweden

^aDepartment of Pediatric Endocrinology and Diabetes, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phosphore, Bicetre Hospital, Paris Sud University, Le Kremlin Bicetre, France; ^bInsitute for Endocrine and Metabolic Research, Hospital Cochin, Paris-Descartes University, Paris, France; ^cInserm U1016, Institut Cochin, Université Paris-Descartes, Paris, France; ^dPediatric Neurology, Necker Enfants Malades University Hospital, Paris, France.

^aHealth Science Department, Anna Meyer Children’s University Hospital, University of Florence, Florence, Italy; ^bDepartment of Health Sciences, Careggi Hospital, University of Florence, Florence, Italy; ^cDepartment of Paediatrics, University of Chieti, Chieti, Italy; ^dDepartment of Paediatrics, University of L’Aquila, L’Aquila, Italy; ^eGenetics and Molecular Medicine Unit, Anna Meyer Children’s University Hospital, Florence, Italy

^aUniversity of Minnesota Masonic Children’s Hospital, Minneapolis, MN, USA; ^bDepartment of Pediatrics, University of Minnesota, Minneapolis, MN, USA; ^cDivision of Pediatric Endocrinology and Metabolism, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA; ^dDepartment of Neurology, University of Minnesota, Minneapolis, MN, USA; ^eDepartment of Physical Medicine & Rehabilitation, University of Minnesota, Minneapolis, MN, USA; ^fDivision of Biostatistics, University of Minnesota, Minneapolis, MN, USA

^aPediatric Endocrinology, Marmara University, Istanbul, Turkey; ^bMedical Genetics, Marmara University, Istanbul, Turkey; ^cAdvanced Genomics and Bioinformatics Research Center TUBITAK-BILGEM-UEKAE, Kocaeli, Turkey; ^dDepartment of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey; ^eMedical Genetics, Hacettepe University, Istanbul, Turkey

^aDepartment of Pediatrics, Aarhus University Hospital, Aarhus, Denmark; ^bMedical Research Laboratory, Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark; ^cDepartment of Medicine V, Aarhus University Hospital, Aarhus, Denmark

^aDepartment of Clinical Endocrinology, Odense University Hospital, Odense, Denmark; ^bH.C. Andersen Children’s Hospital, Odense, Denmark; ^cInstitute of Clinical Research, University of Southern Denmark, Odense, Denmark

Developmental Endocrinology Research Group, School of Medicine, Royal Hospital for Children, University of Glasgow, Glasgow, UK

^aTübingen University Children’s Hospital and Filderklinik, Tübingen, Germany; ^bVisiana, Holt, Denmark

^aUniversity Children’s Hospital and Filderklinik, Tübingen, Germany; ^bVisiana, Holt, Denmark

^aAPHP, Plateforme Expertise Maladies Rares Paris sud, Le Kremlin Bicêtre, France; ^bDevelopmental Endocrinology Research Group, University of Glasgow, Glasgow, UK; ^cHospital Infantil Universitario Niño Jesús, Universidad Autónoma de Madrid, Madrid, Spain; ^dUniversity of Florence, Florence, Italy; ^eInstitute of Child Health, Athens, Greece; ^fUniversity of Vienna, Vienna, Austria; ^gDepartment of Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham, UK; ^hSankt-Petersburg State Pediatric Medical University, San Petersburg, Russia; ⁱChildren’s Hospital, University of Helsinki, Helsinki, Finland; ^jDepartment of Women’s and Children’s Health, Karolinska Institutet and University Hospital, Stockholm, Sweden; ^kCharité, Pediatric Endocrinology, University Medicine, Berlin, Germany; ^lDepartment of Pediatrics, University Hospital Motol, Prague, Czech Republic; ^mChildren’s Clinic of Tartu University Hospital, Tartu, Estonia; ⁿDepartment of Pediatric Endocrinology, Marmara University, Istanbul, Turkey; ^oErasmus MC, Rotterdam, The Netherlands, ^pUniversity of Sheffield and Sheffield Children’s Hospital, Sheffield, UK

Afaf AlSagheir, Riyadh, Saudi Arabia

^aChildrens Hospital, University of Helsinki, Helsinki, Finland; ^bHelsinki University Hospital, Helsinki, Finland

^aCentral Manchester University Hospitals NHS Foundation Trust Hospital, Manchester, UK; ^bCincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA; ^cUniversity of Cincinnati College of Medicine, Cincinnati, OH, USA; ^dGreat Ormond Street Hospital, London, UK

^aBristol Royal Hospital for Children, Bristol, UK; ^bRoyal Devon & Exeter Hospital, Exeter, UK

^aAlder Hey Children’s Hospital, Liverpool, UK; ^bBristol Royal Hospital for Children, Bristol, UK

^aPediatric Endocrinology, AP-HP, Hôpitaux Universitaires Paris Sud, Bicêtre, France; ^bEpidemiology INSERM, St Antoine, France

^aAPHP, CMR Calcium-Phosphore, Bicêtre Paris Sud, France; ^bAPHP, La Pitié Salpétrière, Paris, France; ^cAPHP and Rett Center, Necker-Enfants Malades, Paris, France

^aUniversity Hospital and University of Helsinki, Helsinki, Finland; ^bFolkhälsan Research Center, Helsinki, Finland

^aCHU de Caen – Department of Genetics, Caen, France; ^bCHU de Nancy – Department Pediatrics, Nancy, France; ^cQueen’s University, Kingston, Canada

^aDokuz Eylul University, Izmir, Turkey; ^bKing Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia; ^cIzmir Katip Celebi University, Izmir, Turkey

^aDepartment of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK; ^bPaediatric Endocrinology, King Saud University & King Saud University Medical City, Riyadh, Saudi Arabia

Ewha Womans University School of Medicine, Seoul, Republic of Korea

^aUniversity of Genoa, Genoa, Italy; ^bDepartment of Clinical and Experimental Endocrinology, “Giannina Gaslini” Institute, Genoa, Italy; ^cDepartment of Hematology, Oncology and Bone Marrow Transplantation, “Giannina Gaslini” Institute, Genoa, Italy; ^dEpidemiology, Biostatistics and Committees Unit, “Giannina Gaslini” Institute, Genoa, Italy; ^eGreat Ormond Street Hospital, Pediatric and Neonatal Department, London, UK

^aUnidad de Epidemiología Clínica, Hospital Infantil de México, Mexico City, Mexico; ^bHospital de Especialidades, Centro México Nacional Siglo XXI, Mexico City, Mexico; ^cFacultad de Medicina, UNAM, Mexico City, Mexico; ^dMedImaps, Pessac, France

^aHealth Science Department, University of Florence, Anna Meyer Children’s University Hospital, Florence, Italy; ^bDepartment of Health Sciences, University of Florence, Careggi Hospital, Florence, Italy; ^cDepartment of Paediatrics, Universty of Chieti, Chieti, Italy; ^dDepartment of Paediatrics, University of L’Aquila, L’Aquila, Italy; ^eGenetics and Molecular Medicine Unit, Anna Meyer Children’s University Hospital, Florence, Italy; ^fPaediatric Unit, Empoli Hospital, Empoli, Italy

^aPediatric Endocrinology, Marmara University, School of Medicine, Istanbul, Turkey; ^bMedical Genetics, Marmara University, School of Medicine, Istanbul, Turkey; ^cAdvanced Genomics and Bioinformatics Research Center TUBITAK-BILGEM-UEKAE, Kocaeli, Turkey; ^dMedical Genetics, Hacettepe University, School of Medicine, Ankara, Turkey

UZ Brussel, Brussels, Belgium

Evelina London Children’s Hospital, London, UK

Christian Medical College, Vellore, Tamil Nadu, India

Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea

^aDepartment of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic; ^bAmbulant Centre for Defects of Locomotor Apparatus, Prague, Czech Republic

^aDr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital, Ankara, Turkey; ^bPediatrie Medicale Hopital de la mere et de I’enfant, Limoges, France; ^cLaboratoire de Biochimie Genetique Moleculaire, Limoges, France

Osaka University, Suita, Osaka, Japan

^aRoyal Children’s Hospital, Melbourne, Victoria, Australia; ^bMurdoch Children’s Research Institute, Melbourne, Victoria, Australia

^aUniversity of Brasilia School of Medicine, Brasilia, DF, Brazil; ^bLaboratory of Chronic and Degenerative Diseases, University of Brasilia School of Medicine, Brasilia, DF, Brazil; ^cPostgraduate Program, University of Brasilia School of Health Sciences, Brasilia, DF, Brazil

Dr. v. Haunersches Children’s Hospital, Ludwigs-Maximilians-Universität München, Munich, Germany

^aChildren’s Hospital, University of Cologne, Cologne, Germany; ^bMedimaps SASU, Merignac, France

^aDevelopmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, UK; ^bDepartment of Paediatric Gastroenterology, Royal Hospital for Children, Glasgow, UK; ^cSidra Medical and Research Centre, Doha, Qatar

^aDepartment of Pediatrics and Adolescent Medicine, Medical University Vienna, 1090, Vienna, Austria; ^bInstitute of Anatomy, Histology & Embryology, Department of Pathobiology, University of Veterinary Medicine, Vienna, Austria

^aRoyal Manchester Children’s Hospital, Central Manchester University Hospital NHS Trust, Manchester, UK; ^bDepartment of Paediatric Endocrinology and Diabetes, Nottingham Children’s Hospital, Nottingham, UK