title: A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome.
authors.affiliation: Department of Pediatrics, Division of Cardiology, Children's Hospital of Michigan, The Carman and Ann Adams, Wayne State University School of Medicine, Detroit, Michigan, USA.
authors.forename: Harinder R
authors.initials: HR
authors.lastname: Singh
authors.forename: Zhao
authors.initials: Z
authors.lastname: Yang
authors.forename: Saad
authors.initials: S
authors.lastname: Siddiqui
authors.forename: Liana S
authors.initials: LS
authors.lastname: Peña
authors.forename: Brandy H
authors.initials: BH
authors.lastname: Westerfield
authors.forename: Yuxin
authors.initials: Y
authors.lastname: Fan
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Towbin
authors.forename: Matteo
authors.initials: M
authors.lastname: Vatta
mesh_terms: D000217:Acyltransferases; D020087:Alu Elements / Q000235:genetics; D003850:Deoxyribonuclease I / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D006333:Heart Failure / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008171:Lung Diseases / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D012640:Seizures / Q000175:diagnosis / Q000235:genetics*; D017384:Sequence Deletion; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000235:genetics*
chemical_list: D009124:Muscle Proteins; D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human; C097585:DNASE1L1 protein, human; D003850:Deoxyribonuclease I