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      Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease).

      American Journal of Medical Genetics

      Syndrome, Animals, Mutation, veterinary, genetics, Intestinal Obstruction, Horses, Horse Diseases, Hirschsprung Disease, Genes, Dominant, Disease Models, Animal

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          Abstract

          The lethal white foal syndrome (LWFS) is a congenital abnormality of overo spotted horses which is a model for human aganglionic megacolon or Hirschsprung disease. Foals with LWFS have an all white, or nearly all white, coat. They also present clinically with an intestinal obstruction that proves fatal within the first few days of life. The LWFS involves both melanocytes and intestinal ganglion cells, and appears to result from a genetic defect involving neural crest cells. This report describes pathologic studies of two recent cases of LWFS. Two different hypothetical models of inheritance of LWFS are presented and discussed.

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          Journal
          10.1002/ajmg.1320360319
          2363434

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