TY  - GEN
AU  - Aliferis,Konstantinos
AU  - Stoetzel,Corinne
AU  - Pelletier,Valérie
AU  - Hellé,Sophie
AU  - Angioï-Duprez,Karine
AU  - Vigneron,Jacqueline
AU  - Leheup,Bruno
AU  - Marion,Vincent
AU  - Dollfus,Hélène
TI  - A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype
SN  - 1744-5094
PY  - 2012///0113
KW  - Adolescent
KW  - Branchio-Oto-Renal Syndrome
KW  - diagnosis
KW  - Choroid
KW  - abnormalities
KW  - Coloboma
KW  - genetics
KW  - Female
KW  - Frameshift Mutation
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Microphthalmos
KW  - Middle Aged
KW  - Phenotype
KW  - Retina
KW  - Transcription Factor AP-2
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.3109/13816810.2011.592176
ER  -