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Osteogenesis Imperfecta/Ehlers-Danlos Syndrome Overlap Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed osteogenesis imperfecta (OI)/Ehlers-Danlos syndrome (EDS) phenotype (Malfait et al. 2013).

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References

  • Cabral, W. A., Makareeva, E., Colige, A., et al. (2005). Mutations near amino end of α1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos Syndrome by interference with N-propeptide processing. Journal of Biological Chemistry, 280, 19259–19269.

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Osteogenesis Imperfecta/Ehlers-Danlos Syndrome Overlap Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_265

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_265

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

  • eBook Packages: MedicineReference Module Medicine

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