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  • Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes

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Original research
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes

Authors

  • Beyhan Tuysuz Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Dilek Uludag Alkaya Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Filiz Geyik Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey Department of Genetics, Aziz Sancar Experimental Medicine Research Institute, Istanbul University, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Merve Alaylıoğlu Institute of Neurological Sciences, Brain and Neurodegenerative Disorders Research Laboratory, Istanbul University-Cerrahpasa, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Busra Kasap Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey Department of Genetics, Aziz Sancar Experimental Medicine Research Institute, Istanbul University, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Sebuh Kurugoğlu Department of Pediatric Radiology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Yunus Emre Akman Department of Orthopedics and Traumatology, University of Health Sciences Turkey, Baltalimani Bone Diseases Training and Research Center, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Mehmet Vural Department of Neonatology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Kaya Bilguvar Departments of Neurosurgery and Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Beyhan Tuysuz, Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey; beyhan{at}istanbul.edu.tr
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Citation

Tuysuz B, Uludag Alkaya D, Geyik F, et al
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
Journal of Medical Genetics 2023;60:819-826.

Publication history

  • Received June 15, 2022
  • Accepted December 10, 2022
  • First published December 21, 2022.
Online issue publication 
July 21, 2023

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© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.