Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome

Clin Genet. 2009 Aug;76(2):210-3. doi: 10.1111/j.1399-0004.2009.01235.x. Epub 2009 Jul 29.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Blepharophimosis / complications*
  • Blepharophimosis / genetics
  • Child, Preschool
  • Chromosomes, Human, Pair 3 / genetics
  • Female
  • Gene Rearrangement / genetics*
  • Genome, Human / genetics*
  • Humans
  • Hypothyroidism / complications*
  • Hypothyroidism / genetics
  • Infant, Newborn
  • Intellectual Disability / complications*
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Syndrome