A 5-Mb microdeletion at 6q16.1-q16.3 with SIM gene deletion and obesity

Am J Med Genet A. 2008 Nov 15;146A(22):2975-8. doi: 10.1002/ajmg.a.32555.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6 / genetics*
  • Developmental Disabilities / genetics
  • Diagnosis, Differential
  • Female
  • Gene Deletion
  • Humans
  • In Situ Hybridization, Fluorescence
  • Obesity / genetics*
  • Phenotype
  • Prader-Willi Syndrome / genetics
  • Repressor Proteins / genetics*

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • Repressor Proteins
  • SIM1 protein, human