Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford)

Am J Med Genet. 1988 Nov;31(3):483-7. doi: 10.1002/ajmg.1320310302.

Abstract

We have studied a boy with progeria (Hutchinson Gilford) born to third cousins. Four other individuals with progeria were born in another consanguineous sibship in the same family. Thus, this disorder can be inherited as an autosomal recessive trait.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Aberrations
  • Chromosome Disorders
  • Genes, Recessive*
  • Humans
  • Male
  • Mosaicism*
  • Progeria / genetics*