A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.

Aliferis, Konstantinos

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype. [electronic resource] - Ophthalmic genetics Nov 2011 - 250-5 p. digital

Publication Type: Case Reports; Journal Article

1744-5094

10.3109/13816810.2011.592176 doi


Adolescent
Branchio-Oto-Renal Syndrome--diagnosis
Choroid--abnormalities
Coloboma--genetics
Female
Frameshift Mutation
Genotype
Humans
Male
Microphthalmos--genetics
Middle Aged
Phenotype
Retina--abnormalities
Transcription Factor AP-2--genetics
Young Adult