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XYLT1 mutations in Desbuquois dysplasia type 2.
Bui, Catherine; Huber, Céline; Tuysuz, Beyhan; Alanay, Yasemin; Bole-Feysot, Christine; Leroy, Jules G; Mortier, Geert; Nitschke, Patrick; Munnich, Arnold; Cormier-Daire, Valérie.
Afiliación
  • Bui C; Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France.
  • Huber C; Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France.
  • Tuysuz B; Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul 34098, Turkey.
  • Alanay Y; Pediatric Genetics Unit, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul 34457, Turkey.
  • Bole-Feysot C; Plateforme de Génomique, Fondation IMAGINE, Paris 75015, France.
  • Leroy JG; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Mortier G; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Edegem 2650, Belgium.
  • Nitschke P; Plateforme de Bioinformatique, Université Paris Descartes, Paris 75015, France.
  • Munnich A; Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France.
  • Cormier-Daire V; Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France. Electronic address: valerie.cormier-daire@inserm.fr.
Am J Hum Genet ; 94(3): 405-14, 2014 Mar 06.
Article en En | MEDLINE | ID: mdl-24581741
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pentosiltransferasa / Osificación Heterotópica / Polidactilia / Anomalías Craneofaciales / Enanismo / Inestabilidad de la Articulación / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pentosiltransferasa / Osificación Heterotópica / Polidactilia / Anomalías Craneofaciales / Enanismo / Inestabilidad de la Articulación / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article País de afiliación: Francia