A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome

Am J Med Genet A. 2009 May;149A(5):1082-5. doi: 10.1002/ajmg.a.32822.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acyltransferases
  • Alu Elements / genetics
  • Deoxyribonuclease I / genetics*
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Heart Failure / diagnosis
  • Heart Failure / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Lung Diseases / diagnosis
  • Lung Diseases / genetics*
  • Male
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / genetics*
  • Muscle Proteins / genetics*
  • Seizures / diagnosis
  • Seizures / genetics*
  • Sequence Deletion
  • Syndrome
  • Transcription Factors / genetics*
  • Ventricular Dysfunction, Left / diagnosis
  • Ventricular Dysfunction, Left / genetics*

Substances

  • Muscle Proteins
  • Transcription Factors
  • Acyltransferases
  • TAFAZZIN protein, human
  • DNASE1L1 protein, human
  • Deoxyribonuclease I