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Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.
Tuysuz, Beyhan; Uludag Alkaya, Dilek; Geyik, Filiz; Alaylioglu, Merve; Kasap, Busra; Kurugoglu, Sebuh; Akman, Yunus Emre; Vural, Mehmet; Bilguvar, Kaya.
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  • Tuysuz B; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey beyhan@istanbul.edu.tr.
  • Uludag Alkaya D; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
  • Geyik F; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
  • Alaylioglu M; Department of Genetics, Aziz Sancar Experimental Medicine Research Institute, Istanbul University, Istanbul, Turkey.
  • Kasap B; Institute of Neurological Sciences, Brain and Neurodegenerative Disorders Research Laboratory, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Kurugoglu S; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
  • Akman YE; Department of Genetics, Aziz Sancar Experimental Medicine Research Institute, Istanbul University, Istanbul, Turkey.
  • Vural M; Department of Pediatric Radiology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
  • Bilguvar K; Department of Orthopedics and Traumatology, University of Health Sciences Turkey, Baltalimani Bone Diseases Training and Research Center, Istanbul, Turkey.
J Med Genet ; 60(8): 819-826, 2023 08.
Article en En | MEDLINE | ID: mdl-36543534
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Fracturas Óseas Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Fracturas Óseas Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Reino Unido