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Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.
Marzin, Pauline; Baujat, Geneviève; Gensburger, Déborah; Huber, Céline; Bole, Christine; Panuel, Michel; Finidori, Georges; De la Dure, Muriel; Cormier-Daire, Valérie.
Affiliation
  • Marzin P; Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.
  • Baujat G; Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.
  • Gensburger D; Department of Rheumatology, Edouard Herriot Hospital, Lyon, France.
  • Huber C; Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.
  • Bole C; Genomic Core Facility, INSERM UMR1163, Imagine Institute, Paris, France.
  • Panuel M; Aix Marseille University, CNRS, EFS, ADES, Marseille, France.
  • Finidori G; Department of Pediatric Orthopedics, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker Enfants Malades, Paris, France.
  • De la Dure M; Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France; Laboratory of Molecular Oral Pathophysiology, Centre de Recherche des Cordeliers, INSERM UMRS 1138, University Paris-Descartes, Universi
  • Cormier-Daire V; Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France. Electronic address: valerie.cormier-daire@inserm.fr.
Eur J Med Genet ; 63(2): 103729, 2020 Feb.
Article in En | MEDLINE | ID: mdl-31319224
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Tooth Abnormalities / Receptor, Fibroblast Growth Factor, Type 1 Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Female / Humans / Middle aged Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Tooth Abnormalities / Receptor, Fibroblast Growth Factor, Type 1 Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Female / Humans / Middle aged Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: France