https://avesis.hacettepe.edu.tr/yayin/b90cab68-15a6-4499-aa40-8b3fe2e88257/niikawa-kuroki-kabuki-syndrome-with-congenital-sensorineural-deafness-evidence-for-a-wide-spectrum-of-inner-ear-abnormalities
Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: Evidence for a wide...
kabuki syndrome
https://www.e-cep.org/journal/view.php?number=20125550487
Cheon and Ko: Kabuki syndrome: clinical and molecular characteristics
kabuki syndromekoclinicalmolecularcharacteristics
https://reflabgenetics.com/producto/kabuki-syndrome-type-1-sequencing-kmt2d-mll2-gene/
KABUKI SYNDROME TYPE 1 , SEQUENCING KMT2D (MLL2) GENE - RefLab Genetics
kabuki syndrometypesequencinggene
https://opinvisindi.is/items/261415f2-8b86-4af1-a1cb-5b584a488fb1/full
A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States...
Introduction: Kabuki syndrome is a rare congenital condition characterized clinically by unique facial features, abnormalities in the skeleton, finger pad...
https://www.buffalo.edu/news/releases/2021/01/003.html
Study: New insights on the role of the MLL4 gene in Kabuki syndrome - University at Buffalo
Research suggests that MLL4 controls production of neurons vital to growth.
https://www.allthingskabuki.org/post/ketones-mouse-models-of-kabuki-syndrome
Ketones & Mouse Models of Kabuki Syndrome
mouse modelsketoneskabukisyndrome
https://pubmed.ncbi.nlm.nih.gov/40971994/?dopt=Abstract
Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal...
Kabuki syndrome type 1 (KS1) is a neurodevelopmental disorder caused by loss-of-function variants in KMT2D which encodes a H3K4 methyltransferase. The...