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

AuthorsF Brancati, L Bernardini, D P Cavalcanti, C Romano, A Novelli, B Dallapiccola
JournalClinical genetics (Clin Genet) Vol. 76 Issue 2 Pg. 210-3 (Aug 2009) ISSN: 1399-0004 [Electronic] Denmark
PMID19659891 (Publication Type: Case Reports, Comment, Letter, Research Support, Non-U.S. Gov't)
Topics
  • Abnormalities, Multiple (genetics)
  • Adult
  • Blepharophimosis (complications, genetics)
  • Child, Preschool
  • Chromosomes, Human, Pair 3 (genetics)
  • Female
  • Gene Rearrangement (genetics)
  • Genome, Human (genetics)
  • Humans
  • Hypothyroidism (complications, genetics)
  • Infant, Newborn
  • Intellectual Disability (complications, genetics)
  • Karyotyping
  • Male
  • Syndrome

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