TY - GEN AU - Stoetzel,C AU - Riehm,S AU - Bennouna Greene,V AU - Pelletier,V AU - Vigneron,J AU - Leheup,B AU - Marion,V AU - Hellé,S AU - Danse,J M AU - Thibault,C AU - Moulinier,L AU - Veillon,F AU - Dollfus,H TI - Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies SN - 1552-4833 PY - 2009///1217 KW - Amino Acid Sequence KW - Base Sequence KW - Branchio-Oto-Renal Syndrome KW - complications KW - Child KW - DNA Mutational Analysis KW - Female KW - Humans KW - Male KW - Molecular Sequence Data KW - Pedigree KW - Temporal Bone KW - abnormalities KW - Transcription Factor AP-2 KW - genetics N1 - Publication Type: Case Reports; Journal Article; Validation Study UR - https://doi.org/10.1002/ajmg.a.33015 ER -