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Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?
  1. L I al-Gazali,
  2. D Donnai,
  3. R F Mueller
  1. Department of Genetic Counselling, General Infirmary, Leeds.


    Three children are reported, a male and female sib pair of Sikh origin and a male child who was the offspring of first cousin Pakistani Muslims, with Hirschsprung's disease, hypoplastic nails, and similar minor dysmorphic features. We consider that they represent a distinct autosomal recessive syndrome.

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