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Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling
Authors:Brigitte Simon-Bouy  Agnès Taillandier  Delphine Fauvert  Isabelle Brun-Heath  Jean-Louis Serre  Carmen G Armengod  Martin G Bialer  Michèle Mathieu  Jacques Cousin  David Chitayat  Jan Liebelt  Barbara Feldman  Marion Gérard-Blanluet  Stefani Körtge-Jung  Cath King  Hannele Laivuori  Martine Le Merrer  Sarju Mehta  Christina Jern  Saba Sharif  Fabienne Prieur  Gabriele Gillessen-Kaesbach  Andreas Zankl  Etienne Mornet
Institution:1. Laboratoire SESEP, Centre Hospitalier de Versailles, Le Chesnay, France;2. Equipe EA2493, Université de Versailles-Saint Quentin en Yvelines, Versailles, France;3. Department of Pediatrics, Hospital Rio Hortega, Valladolid, Spain;4. Division of Medical Genetics, North Shore Long Island Jewish Health System, University Hospital, Manhasset, USA;5. Service de Cytogénétique, CHU d'Amiens, Amiens, France;6. Centre de Génétique, Hopital Saint-Antoine, Lille, France;7. The Prenatal Diagnosis and Medical Genetics Program (D.C.), Mount Sinai Hospital, University of Toronto, Toronto, Canada;8. Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, Australie;9. Madona Perinatal Service, Mineloa, USA;10. Department of Clinical Genetics, Hôpital Robert Debré, Paris, France;11. Prenatal Diagnosis and Genetics, Graf-Adolf-Str 35, Düsseldorf, Germany;12. Department of Clinical Genetics, Royal United Hospital, Bath, UK;13. HUSLAB Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland;14. Département de Génétique, et Unité INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France;15. Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester, UK;16. Department of Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden;17. Service de Génétique Clinique Chromosomique et Moléculaire, CHU, St Etienne, France;18. Institut für Humangenetik, Lubeck, Germany;19. Genetic Health Queensland, Royal Children's Hospital, Brisbane, Australia;20. Laboratoire SESEP, Centre Hospitalier de Versailles, Le Chesnay, France

Equipe EA2493, Université de Versailles-Saint Quentin en Yvelines, Versailles, France

Abstract:
Keywords:hypophosphatasia  ultrasounds  perinatal form  genetic counseling  ALPL mutations  alkaline phosphatase
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