Objective To determine the frequency and types of renal malformations, and to evaluate
renal function in a cohort of patients with Kabuki syndrome (KS). Study design Renal …

Kabuki syndrome (KS) is a rare multiple malformation disorder characterized by
developmental delay, distinct facial anomalies, congenital heart defects, limb and skeletal …

Background Kabuki syndrome (KS) is a genetic disorder caused mainly by de novo
pathogenic variants in KMT2D or KDM6A, characterized by recognizable facial features …

Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive
facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate …

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

We report a case of successful renal transplantation in a child with Kabuki syndrome. We
discuss the potential problems that might be encountered following kidney transplantation in …

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 …

Background: Kabuki syndrome is a rare condition characterized by distinct dysmorphic
features and a broad spectrum of organ anomalies. Differentiating it from other syndromes …

Objective: To report the phenotypic spectrum and management issues of children with
Kabuki syndrome (Niikawa-Kuroki syndrome) from North America. Design: A case series of …

Abstract Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple
congenital anomalies/mental retardation syndrome characterized by a peculiar face, short …