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Research Article
Sorsby syndrome: a report on further generations of the original family.
  1. E M Thompson,
  2. M Baraitser
  1. Clinical Genetics Unit, Hospitals for Sick Children, London.

    Abstract

    Sorsby syndrome is a dominantly inherited combination of bilateral macular colobomas and apical dystrophy of the hands and feet (brachydactyly type B). We report on a further three affected members of the family originally described by Sorsby. Two of these have a single kidney, two have hearing loss, and one has a uterine anomaly.

    https://doi.org/10.1136/jmg.25.5.313

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