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  • Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities

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Genotype-phenotype correlations
Original research
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities

Authors

  • Bernadette R Gochuico Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Mahin Hossain Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Undergraduate Scholarship Program, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Sara K Talvacchio Office of the Clinical Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Mei Xing G Zuo Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Mark Barton Pulmonary Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • An Ngoc Dang Do Office of the Clinical Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Joan C Marini Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Joan C Marini, Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA; oidoc{at}helix.nih.gov
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Citation

Gochuico BR, Hossain M, Talvacchio SK, et al
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities
Journal of Medical Genetics 2023;60:1067-1075.

Publication history

  • Received October 23, 2022
  • Accepted April 24, 2023
  • First published May 16, 2023.
Online issue publication 
October 24, 2023

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