Kabuki syndrome (KS)KMD2DKDM6Aocular featuresBackground: We investigated the ocular manifestations in patients with Kabuki syndrome(KS). Methods: A retrospective chart review was performed in 10 patients with KS were referred to the Department of Ophthalmology for evaluation of ocular manifestations. ...
Kabuki syndrome is a multi-system disorder characterized by mental retardation, skeletal abnormalities, distinct facial features, and ocular anomalies. Mutations in the genes KMT2D and KDM6A are implicated in its pathogenesis (Murakami et al., 2020). Bilateral superior and inferior punctal agenesis ...
Kabuki syndrome is a multiple congenital anomalies/mental retardation syndrome of unknown cause. Its five cardinal manifestations are characteristic facies, skeletal anomalies, dermatoglyphic anomalies, mental retardation, and short stature.1, 2, 3, 4 This is a preview of subscription content, access ...
Kabuki syndrome (KS)KMD2DKDM6Aocular featuresBackground: We investigated the ocular manifestations in patients with Kabuki syndrome(KS).Cheon, Chong KunChoi, Hee YoungPark, Su HwanJung, Jae HoKim, Su JinPusan Natl Univ Childrens Hosp Sch Med Dept Pediat Div Med Genet Yangsan Si South Korea...
Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features, developmental delay and multiple congenital anomalies. Ophthalmological involvement has been described in varying rates in ...
1. Introduction Kabuki syndrome (KS) is characterized by distinct facial dysmorphism, growth retar- dation, psychomotor developmental delay and a wide spectrum of other manifestations affecting various body systems. Its genetic etiology has been proven approximately a decade ago [1]. Since then, KS...