Article
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.
American journal of medical genetics. Part A - 1 Oct 2022
Usluer Esra, Sayın Gözde Yeşil, Güneş Nilay, Kasap Buşra, Tüysüz Beyhan
Abstract excerpt
Kabuki syndrome (KS) is a rare disorder characterized by distinct face, persistent fingertip pads, and intellectual disability (ID) caused by mutation in KMT2D (56%-76%) or KDM6A (5%-8%). Thirty-seven children aged 1-16 years who followed for median of 6.8 years were included in this study, which aimed to investigate the genetic and clinical characteristics of KS patients. KMT2D and KDM6A were evaluated by...
Topics
- Abnormalities, Multiple
- Face
- Hematologic Diseases
- Histone Demethylases
- Humans
- Intellectual Disability
- Phenotype
- Vestibular Diseases