Novel homozygous mutation in DSP causing skin fragility–woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes

  1. M Al-Owain1,2,†,*,
  2. S Wakil3,†,
  3. F Shareef4,
  4. A Al-Fatani4,
  5. E Hamadah5,
  6. M Haider5,
  7. H Al-Hindi6,
  8. A Awaji7,
  9. O Khalifa1,
  10. B Baz3,
  11. R Ramadhan3,
  12. B Meyer3

Article first published online: 22 JUL 2010

DOI: 10.1111/j.1399-0004.2010.01518.x

Issue

Clinical Genetics

Clinical Genetics

Volume 80, Issue 1, pages 50–58, July 2011

Additional Information

How to Cite

Al-Owain, M., Wakil, S., Shareef, F., Al-Fatani, A., Hamadah, E., Haider, M., Al-Hindi, H., Awaji, A., Khalifa, O., Baz, B., Ramadhan, R. and Meyer, B. (2011), Novel homozygous mutation in DSP causing skin fragility–woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. Clinical Genetics, 80: 50–58. doi: 10.1111/j.1399-0004.2010.01518.x

Author Information

  1. 1

    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

  2. 2

    College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

  3. 3

    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

  4. 4

    Department of Pediatrics, Maternity and Children Hospital, Jeddah, Riyadh, Saudi Arabia

  5. 5

    Dermatology Unit, Department of Medicine

  6. 6

    Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

  7. 7

    Department of Pediatrics, King Fahad General Hospital, Jizan, Saudi Arabia

  1. †

    These authors contributed equally to this work.

*Mohammed Al-Owain, MD, Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, MBC # 75, Riyadh 11211, Saudi Arabia. Tel: +966-1 4424988; fax: +966-1 4424126; e-mail: alowain@kfshrc.edu.sa [PO BOX 3354]

  1. †

    These authors contributed equally to this work.

Publication History

  1. Issue published online: 8 JUN 2011
  2. Article first published online: 22 JUL 2010
  3. Accepted manuscript online: 22 JUL 2010 12:00AM EST
  4. Received 17 May 2010, revised and accepted for publication 19 July 2010

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