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- W4247173323 abstract "(American Journal of Human Genetics 82, 1171–1177; April 2008) The mutation name for patient 4 in both Figure 3 and Table 1 is incorrectly identified as R254G. The correct mutation name is R254W. The correct mutation is discussed in the text. The authors apologize for this error. TFAP2A Mutations Result in Branchio-Oculo-Facial SyndromeMilunsky et al.The American Journal of Human GeneticsApril 17, 2008In BriefBranchio-oculo-facial syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable expressivity. The major features include cutaneous anomalies (cervical, infra- and/or supra-auricular defects, often with dermal thymus), ocular anomalies, characteristic facial appearance (malformed pinnae, oral clefts), and, less commonly, renal and ectodermal (dental and hair) anomalies. The molecular basis for this disorder is heretofore unknown. We detected a 3.2 Mb deletion by 500K SNP microarray in an affected mother and son with BOFS at chromosome 6p24.3. Full-Text PDF Open Archive" @default.
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- W4247173323 date "2009-02-01" @default.
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- W4247173323 title "TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome" @default.
- W4247173323 doi "https://doi.org/10.1016/j.ajhg.2008.12.016" @default.
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