Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems

Adam J de Smith, Mieke M van Haelst, Richard J Ellis, Susan E Holder, Stewart J Payne, Sugera K Hashim, Philippe Froguel, Alexandra I F Blakemore

Research output: Contribution to journalArticleAcademicpeer-review

16 Citations (Scopus)
Original languageEnglish
Pages (from-to)1192-5
Number of pages4
JournalAmerican Journal of Medical Genetics Part A
Volume155A
Issue number5
DOIs
Publication statusPublished - May 2011

Keywords

  • Adolescent
  • Chromosome Deletion
  • Chromosomes, Human, Pair 19
  • Comparative Genomic Hybridization
  • Exons
  • Female
  • Gene Dosage
  • Humans
  • Intellectual Disability/genetics
  • Megalencephaly/genetics
  • Mental Disorders/genetics
  • Obesity/genetics

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