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Unusually severe hypophosphatemic rickets caused by a novel and complex re‐arrangement of the PHEX gene
Authors:Tuula Pekkarinen  Bettina Lorenz‐Depiereux  Martina Lohman  Outi Mäkitie
Affiliation:1. Division of Endocrinology, Department of Medicine, Helsinki University Central Hospital, Vantaa, Finland;2. Correspondence to:;3. Tuula Pekkarinen, Division of Endocrinology, Department of Medicine, Helsinki University Central Hospital, Sairaalakatu 1, Vantaa, P.O.Box 900, FI‐00029 HUS.;4. E‐mail:;5. Institute of Human Genetics, Helmholtz Center Munich, Neuherberg, Germany;6. HUS Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland;7. Pediatric Endocrinology and Metabolic Bone Diseases, Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland;8. Folkh?lsan Institute of Genetics, Helsinki, Finland;9. Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
Abstract:
Keywords:X‐linked hypophosphatemia  novel deletions/insertion in PHEX gene  severe phenotype
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