Newly recognized orbital malformations in kabuki syndrome: A case report
Sign Up to like & getrecommendations! Published in 2024 at "European Journal of Ophthalmology"
DOI: 10.1177/11206721241249224
Abstract: Kabuki syndrome (KS) is a rare congenital disorder with distinctive characteristics. Herein, we describe a KS patient carrying a novel mutation in the KMT2D gene, c.11785C > T (p.Gln3929*). The patient presented with typical eyelid deformities, including… read more here.
Keywords: newly recognized; kabuki syndrome; orbital malformations; bone ... See more keywords