A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric ophthalmology and strabismus"
DOI: 10.3928/01913913-20220825-01
Abstract: PURPOSE To review the literature on branchio-oculo-facial syndrome and describe a new case. METHODS A girl presented with a de novo pathogenic mutation in the TFAP2A gene consistent with branchiooculo-facial syndrome. A systematic review was… read more here.
Keywords: comprehensive review; review; new case; facial syndrome ... See more keywords