Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases

JH Yoon, S Hwang, H Bae, D Kim, GH Seo… - Journal of Human …, 2024 - nature.com

Introduction Kabuki syndrome (KS) is a rare disorder characterized by typical facial features,
skeletal anomalies, fetal fingertip pad persistence, postnatal growth retardation, and …

Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)

L Rossini, S Ricci, D Montin, C Azzari… - Journal of Clinical …, 2024 - Springer

Kabuki Syndrome (KS) is a multisystemic genetic disorder. A portion of patients has
immunological manifestations characterized by increased susceptibility to infections and …

[HTML][HTML] Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome

CL Lee, CK Chuang, MR Chen, JL Lin, HC Chiu… - Diagnostics, 2024 - mdpi.com

Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki
syndrome. However, the prevalence and type of CHD and the genotype–phenotype …

A Case of Kabuki Syndrome Caused by a Novel Mutation in KMT2D and a Literature Review of Ocular Abnormalities

Y Zhang, X Chen, L Ye - 2024 - researchsquare.com

Objective: By summarizing the clinical characteristics and genetic variations, this study aims
to report a case of one child with type I Kabuki syndrome (KS), and to analyze the features …

[PDF][PDF] Síndrome de Kabuki. Presentación de un caso

FAT Viteri, LC Carbo, FAT Sánchez… - ACADEMIC … - researchgate.net

El síndrome de Kabuki fue descrito por primera vez en 1981 por los autores Niikawa y
Kuroki. En un inicio fue descrito en japoneses, pero cada vez se diagnostican más casos …