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  • De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.

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Research Article
De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.
  1. J H Hersh,
  2. F F Yen,
  3. S C Peiper,
  4. M J Barch,
  5. O A Yacoub,
  6. D H Voss,
  7. J L Roberts
  1. Department of Pediatrics, University of Louisville, Kentucky 40202, USA.

    Abstract

    A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia.

    https://doi.org/10.1136/jmg.32.4.293

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