12q12 deletion: a new patient contributing to genotype-phenotype correlation

Am J Med Genet A. 2008 May 15;146A(10):1354-7. doi: 10.1002/ajmg.a.32280.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology*
  • Child
  • Chromosome Deletion*
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / physiopathology*
  • Chromosomes, Human, Pair 12 / genetics
  • Face / abnormalities
  • Genotype
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / pathology
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis
  • Phenotype