Your browser doesn't support javascript.
loading
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Dubail, Johanne; Huber, Céline; Chantepie, Sandrine; Sonntag, Stephan; Tüysüz, Beyhan; Mihci, Ercan; Gordon, Christopher T; Steichen-Gersdorf, Elisabeth; Amiel, Jeanne; Nur, Banu; Stolte-Dijkstra, Irene; van Eerde, Albertien M; van Gassen, Koen L; Breugem, Corstiaan C; Stegmann, Alexander; Lekszas, Caroline; Maroofian, Reza; Karimiani, Ehsan Ghayoor; Bruneel, Arnaud; Seta, Nathalie; Munnich, Arnold; Papy-Garcia, Dulce; De La Dure-Molla, Muriel; Cormier-Daire, Valérie.
Afiliación
  • Dubail J; Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France.
  • Huber C; Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France.
  • Chantepie S; Cell Growth and Tissue Repair CRRET Laboratory, Université Paris-Est Créteil, EA 4397 CNRS 9215, Créteil, F-94010, France.
  • Sonntag S; PolyGene AG, Rümlang, CH-8153, Switzerland.
  • Tüysüz B; Department of Pediatric Genetics, Cerrahpasa Medicine School, Istanbul University, 34290 Istanbul, Turkey.
  • Mihci E; Akdeniz University Paediatric Genetic Deaprtment, 07059 Antalya, Turkey.
  • Gordon CT; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
  • Steichen-Gersdorf E; Department of Paediatrics I, Medical University of Innsbruck, A-6020 Innsbruck, Austria.
  • Amiel J; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
  • Nur B; Department of Pediatric Genetics, Cerrahpasa Medicine School, Istanbul University, 34290 Istanbul, Turkey.
  • Stolte-Dijkstra I; Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 Groningen, The Netherlands.
  • van Eerde AM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3508 Utrecht, The Netherlands.
  • van Gassen KL; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3508 Utrecht, The Netherlands.
  • Breugem CC; Division of Paediatric Plastic Surgery, Wilhelmina Children´s Hopsital, 3584 Utrecht, The Netherlands.
  • Stegmann A; Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, The Netherlands.
  • Lekszas C; Department of Clinical Genetics, Maastricht University Medical Center, 6202 Maastricht, The Netherlands.
  • Maroofian R; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074 Würzburg, Germany.
  • Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, Cranmer Terrace, London SW17 ORE, UK.
  • Bruneel A; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, Cranmer Terrace, London SW17 ORE, UK.
  • Seta N; Next Generation Genetic Clinic, 9175954353 Mashhad, Iran.
  • Munnich A; Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, 9198613636 Mashhad, Iran.
  • Papy-Garcia D; AP-HP, Biochimie Métabolique et cellulaire, Hôpital Bichat, 75018 Paris, France.
  • De La Dure-Molla M; AP-HP, Biochimie Métabolique et cellulaire, Hôpital Bichat, 75018 Paris, France.
  • Cormier-Daire V; Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France.
Nat Commun ; 9(1): 3087, 2018 08 06.
Article en En | MEDLINE | ID: mdl-30082715
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades del Desarrollo Óseo / Transportadores de Anión Orgánico Sodio-Dependiente / Simportadores / Amelogénesis Imperfecta / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Child / Child, preschool / Humans / Infant Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2018 Tipo del documento: Article País de afiliación: Francia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades del Desarrollo Óseo / Transportadores de Anión Orgánico Sodio-Dependiente / Simportadores / Amelogénesis Imperfecta / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Child / Child, preschool / Humans / Infant Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2018 Tipo del documento: Article País de afiliación: Francia