Congenital heart defects in molecularly proven Kabuki syndrome patients
MC Digilio, M Gnazzo, F Lepri… - American journal of …, 2017 - Wiley Online Library
The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to
80%. Between January 2012 and December 2015, 28 patients had a molecularly proven …
80%. Between January 2012 and December 2015, 28 patients had a molecularly proven …
Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations
N Kurahashi, N Miyake, S Mizuno, E Koshimizu… - Brain and …, 2017 - Elsevier
Background The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D
mutations (KABUK1) have not yet been well documented. This is the first review to explore …
mutations (KABUK1) have not yet been well documented. This is the first review to explore …
Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child
We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian
parents with typical characteristics of Kabuki make-up syndrome. The patient had …
parents with typical characteristics of Kabuki make-up syndrome. The patient had …