Kabuki syndrome (KS) is a rare developmental disorder principally comprised of
developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the …

Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes
of histone modification, including KMT2D and KDM6A. This review assesses our current …

Kabuki syndrome (KS) is a rare multiple congenital anomaly syndrome characterized by
distinctive facial features, global developmental delay, intellectual disability and …

OBJECTIVES: We describe the first cohort-based analysis of the impact of genetic disorders
in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis …

The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of
Kabuki syndrome (KS) has shed new light on the pathogenesis of this well‐delineated …

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 …

Objective To review the clinical and molecular genetic characteristics of 16 patients
presenting a suspected diagnosis of Kabuki syndrome (KS) in the first year of life, to …

Kabuki syndrome (KS) is one of the classical, clinically well-known multiple
anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial …

Background Kabuki syndrome (KS) is a complex multisystem developmental disorder
associated with mutation of genes encoding histone-modifying proteins. In addition to …

Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with
eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella …