Kabuki syndrome (KS) is a multiple congenital anomalies/intellectual disability syndrome characterized by developmental delay, specific facial features, skeletal and visceral abnormalities. This syndrome is caused by mutations in the MLL2 and KDM6A genes. The autoimmune abnormalities have been described in very rare patients with KS. Herein, we present a very rare condition, KS coexisting with ...

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in...

The negative impact of Covid-19 on children's character development calls for activities to restore social interaction that affects attitudes and behavior through Balinese Karawitan Art. aim such is improve concentration skills by applying the value moral education in participating Arts activities. implementation values provides a correlation growth using mirror effect theory, which refers pers...

This paper uses the realisation of locative-related roles in Balinese to show that there is no clear-cut distinction between arguments and adjuncts, supporting the gradient nature of grammatical functions (cf. Croft 2001; Langacker 1987; Aarts 2007). It argues that argumenthood is not wholly a property of a lexical head predicate and that a purely lexically based projectionist approach to synta...