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Research Article
Alagille syndrome and deletion of 20p.
  1. F Anad,
  2. J Burn,
  3. D Matthews,
  4. I Cross,
  5. B C Davison,
  6. R Mueller,
  7. M Sands,
  8. D M Lillington,
  9. E Eastham
  1. Division of Human Genetics, University of Newcastle upon Tyne.

    Abstract

    We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. Included in our series is the first report of familial transmission of a 20p deletion.

    https://doi.org/10.1136/jmg.27.12.729

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