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

L. I. Al-Gazali, D. Donnai, R. F. Mueller

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)758-761
Number of pages4
JournalJournal of medical genetics
Volume25
Issue number11
DOIs
Publication statusPublished - 1988
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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