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Research Article
Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.
  1. K L Ying,
  2. J Oizumi,
  3. C J Curry
  1. Division of Medical Genetics, Children's Hospital, Los Angeles, CA 90054.

    Abstract

    This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.

    https://doi.org/10.1136/jmg.27.4.258

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