Articles with "facial syndrome" as a keyword



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A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome.

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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