Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?

نویسندگان

  • L I al-Gazali
  • D Donnai
  • R F Mueller
چکیده

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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عنوان ژورنال:
  • Journal of medical genetics

دوره 25 11  شماره 

صفحات  -

تاریخ انتشار 1988