GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease
Pehlivan T, Pober B, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson D, Watson M, Hing A. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. American Journal Of Medical Genetics 1999, 83: 201-206. PMID: 10096597, DOI: 10.1002/(sici)1096-8628(19990319)83:3<201::aid-ajmg11>3.0.co;2-v.Peer-Reviewed Original ResearchConceptsCardiac transcription factor genesZinc finger transcription factorHuman chromosome armsTranscription factor genesFinger transcription factorCardiac gene expressionChromosome armsTranscription factorsFactor genesGene expressionGATA4 geneInterstitial deletionGATA-4GenesLociFISH analysisSitu hybridizationDeletionHaploinsufficiencySubmicroscopic deletionRecent studiesPhenotype of patientsCellsMonosomyNormal karyotype