title: Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.
authors.forename: W
authors.initials: W
authors.lastname: Gong
authors.forename: S
authors.initials: S
authors.lastname: Gottlieb
authors.forename: J
authors.initials: J
authors.lastname: Collins
authors.forename: A
authors.initials: A
authors.lastname: Blescia
authors.forename: H
authors.initials: H
authors.lastname: Dietz
authors.forename: E
authors.initials: E
authors.lastname: Goldmuntz
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: D A
authors.initials: DA
authors.lastname: Driscoll
authors.forename: M L
authors.initials: ML
authors.lastname: Budarf
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D017398:Alternative Splicing / Q000235:genetics; D000818:Animals; D018376:Cardiovascular Abnormalities / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D004062:DiGeorge Syndrome / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns / Q000235:genetics; D051379:Mice; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics; D020825:T-Box Domain Proteins / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D020825:T-Box Domain Proteins; C108625:TBX1 protein, human; C491573:Tbx1 protein, mouse