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Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases
  1. Oliver J McElvaney1,
  2. Marjan Huizing2,
  3. William A Gahl2,
  4. Paul O’Donovan3,
  5. Deirdre Horan1,
  6. P Mark Logan4,
  7. Emer P Reeves1,
  8. Noel G McElvaney1
  1. 1 Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland
  2. 2 Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
  3. 3 Hermansky-Pudlak Syndrome Network, Oyster Bay, New York, USA
  4. 4 Department of Radiology, Beaumont Hospital, Dublin, Ireland
  1. Correspondence to Dr Oliver J McElvaney, Department of Medicine, Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin 2, Ireland; olivermcelvaney{at}rcsi.ie

Footnotes

  • Contributors OJMcE: the lead author and corresponding author. MH and WAG: performed genetic analyses. PML: evaluated serial imaging. PO’D and DH: contributed to writing and fact-checking the manuscript. EPR and NGMcE: share senior authorship.

  • Funding EPR acknowledges funding from the US Alpha One Foundation and NGMcE received funding from the Medical Research Charities Group/Health Research Board Ireland.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval Beaumont Hospital Ethics Committee.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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Footnotes

  • Contributors OJMcE: the lead author and corresponding author. MH and WAG: performed genetic analyses. PML: evaluated serial imaging. PO’D and DH: contributed to writing and fact-checking the manuscript. EPR and NGMcE: share senior authorship.

  • Funding EPR acknowledges funding from the US Alpha One Foundation and NGMcE received funding from the Medical Research Charities Group/Health Research Board Ireland.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval Beaumont Hospital Ethics Committee.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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