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Long‐term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation
Authors:Outi Mäkitie  Renata C Pereira  Ilkka Kaitila  Serap Turan  Murat Bastepe  Tero Laine  Heikki Kröger  William G Cole  Harald Jüppner
Institution:1. Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland;2. Folkh?lsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland;3. Department of Pediatrics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA;4. Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA;5. Department of Surgery, Bone and Cartilage Research Unit, Kuopio University Hospital, Kuopio, Finland;6. Division of Orthopaedic Surgery, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Abstract:
Keywords:hypophosphatemia  rickets  osteomalacia  skeletal dysplasia  DMP1  FGF‐23
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