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Rare disease
CASE REPORT
Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene
  1. Hamdan Alrajhi1,
  2. Jubara Alallah2,3,
  3. Aiman Shawli2,4,
  4. Khalid Alghamdi1 and
  5. Fahad Hakami5
  1. 1 College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia
  2. 2 Department of Pediatrics, King Abdulaziz Medical City, Jeddah, Saudi Arabia
  3. 3 Department of Neonatology, King Abdulaziz Medical City, Jeddah, Saudi Arabia
  4. 4 Departments of Clinical Genetics, King Abdulaziz Medical City, Jeddah, Saudi Arabia
  5. 5 Molecular Medicine Section, Department of Pathology, (KAMC-WR), Jeddah, Saudi Arabia
  1. Correspondence to Dr Hamdan Alrajhi, dr.hamdan.ra{at}hotmail.com

Footnotes

  • Contributors All authors certify that they have participated sufficiently in the work to take public responsibility for the content, including participation in the concept, design, analysis, writing or revision of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

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

  • Patient consent for publication Parental/guardian consent obtained.

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http://dx.doi.org/10.1136/bcr-2018-224197

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    Footnotes

    • Contributors All authors certify that they have participated sufficiently in the work to take public responsibility for the content, including participation in the concept, design, analysis, writing or revision of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

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

    • Patient consent for publication Parental/guardian consent obtained.

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