Research Article

Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA)†

  1. Leslie Richter1,2,
  2. Pamela Flodman3,
  3. Fernando Barria von-Bischhoffshausen4,
  4. Douglas Burch1,
  5. Sandra Brown3,
  6. Linda Nguyen3,
  7. Julia Turner1,5,7,
  8. M. Anne Spence3,
  9. J. Bronwyn Bateman1,6,*

Article first published online: 26 FEB 2008

DOI: 10.1002/ajmg.a.32236

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 146A, Issue 7, pages 833–842, 1 April 2008

Additional Information

How to Cite

Richter, L., Flodman, P., Barria von-Bischhoffshausen, F., Burch, D., Brown, S., Nguyen, L., Turner, J., Spence, M. A. and Bateman, J. B. (2008), Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). Am. J. Med. Genet., 146A: 833–842. doi: 10.1002/ajmg.a.32236

Author Information

  1. 1

    Department of Ophthalmology, Rocky Mountain Lions Eye Institute, Aurora, Colorado

  2. 2

    Martek Biosciences Corporation based in Columbia, Maryland

  3. 3

    Department of Pediatrics, University of California, Irvine, California

  4. 4

    Sequenom, Inc., San Diego, California

  5. 5

    Departamento de Oftalmologia, Universidad de Concepción, Servicio de Oftalmologia, Hospital Clinico Regional de Concepción, Concepción, Chile

  6. 6

    The Children's Hospital, Denver, Colorado

  7. 7

    Novartis Research Foundation, San Diego, California

*Department of Ophthalmology, University of Colorado, P.O. Box 6511, Mail Stop 8132, Aurora, CO 80045.

  1. †

    How to cite this article: Richter L, Flodman P, Barria von-Bischhoffshausen F, Burch D, Brown S, Nguyen L, Turner J, Spence MA, Bateman JB. 2008. Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). Am J Med Genet Part A 146A:833–842.

Publication History

  1. Issue published online: 24 MAR 2008
  2. Article first published online: 26 FEB 2008
  3. Manuscript Accepted: 8 OCT 2007
  4. Manuscript Received: 21 DEC 2006

Funded by

  • National Eye Institute. Grant Number: EY08282

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