Clinical Report

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder†

  1. Ghada M.H. Abdel-Salam1,*,
  2. Noriko Miyake2,
  3. Maha M. Eid3,
  4. Mohamed S. Abdel-Hamid4,
  5. Nihal A. Hassan5,
  6. Ola M. Eid3,
  7. Laila K. Effat4,
  8. Tarek H. El-Badry6,
  9. Ghada Y. El-Kamah1,
  10. Mohamed El-Darouti7,
  11. Naomichi Matsumoto2,*

Article first published online: 11 OCT 2011

DOI: 10.1002/ajmg.a.34299

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 155, Issue 11, pages 2885–2896, November 2011

Additional Information

How to Cite

Abdel-Salam, G. M.H., Miyake, N., Eid, M. M., Abdel-Hamid, M. S., Hassan, N. A., Eid, O. M., Effat, L. K., El-Badry, T. H., El-Kamah, G. Y., El-Darouti, M. and Matsumoto, N. (2011), A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Am. J. Med. Genet., 155: 2885–2896. doi: 10.1002/ajmg.a.34299

Author Information

  1. 1

    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

  2. 2

    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan

  3. 3

    Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

  4. 4

    Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

  5. 5

    Ophthalmology Department, Faculty of Medicine, Cairo University, Cairo, Egypt

  6. 6

    Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

  7. 7

    Department of Dermatology, Faculty of Medicine, Cairo University, Cairo, Egypt

*Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Tahrir Street, Dokki, Cairo, Egypt.

  1. †

    How to Cite this Article: Abdel-Salam GMH, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N. 2011. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Am J Med Genet Part A 155: 2885–2896.

Publication History

  1. Issue published online: 20 OCT 2011
  2. Article first published online: 11 OCT 2011
  3. Manuscript Accepted: 17 AUG 2011
  4. Manuscript Received: 3 JUL 2011

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