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Two novel mutations in XYLT2 cause spondyloocular syndrome.
Taylan, Fulya; Yavas Abali, Zehra; Jäntti, Nina; Günes, Nilay; Darendeliler, Feyza; Bas, Firdevs; Poyrazoglu, Sükran; Tamçelik, Nevbahar; Tüysüz, Beyhan; Mäkitie, Outi.
Afiliación
  • Taylan F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
  • Yavas Abali Z; Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Jäntti N; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
  • Günes N; Department of Pediatric Genetics, Cerrahpasa Medicine School, Istanbul University, Istanbul, Turkey.
  • Darendeliler F; Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Bas F; Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Poyrazoglu S; Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Tamçelik N; Department of Ophthalmology, Cerrahpasa Medicine School, Istanbul University, Istanbul, Turkey.
  • Tüysüz B; Department of Pediatric Genetics, Cerrahpasa Medicine School, Istanbul University, Istanbul, Turkey.
  • Mäkitie O; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
Am J Med Genet A ; 173(12): 3195-3200, 2017 Dec.
Article en En | MEDLINE | ID: mdl-28884924
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Pentosiltransferasa / Catarata / Desprendimiento de Retina / Enfermedades Hereditarias del Ojo / Anomalías Craneofaciales Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Suecia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Pentosiltransferasa / Catarata / Desprendimiento de Retina / Enfermedades Hereditarias del Ojo / Anomalías Craneofaciales Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Suecia