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  • Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome.

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Research Article
Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome.
  1. J R Ward,
  2. C Saad de Owens,
  3. I A Sierra
  1. Clinical Genetics Section, Complejo Hospitalario Metropolitano de la Caja del Seguro Social Arnulfo Arias M, Panama City, Panama.

    Abstract

    Two sibs are reported with upper limb defect, developmental delay, central hearing loss, unilateral poorly developed antihelix, and bilateral choroid coloboma. The inheritance is probably autosomal recessive.

    https://doi.org/10.1136/jmg.29.8.589

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