Publications by authors named "Peter M Van Laarhoven"
Hum Mol Genet
August 2015
Article Synopsis
- Kabuki syndrome (KS) is a rare genetic disorder marked by unique facial features, developmental delays, intellectual disabilities, and issues with the heart and muscles, primarily linked to mutations in the KMT2D and KDM6A genes.
- In a study of 40 KS patients, mutations were found in KMT2D in 12 cases and KDM6A in 4 cases, including various genetic alterations and chromosome microdeletions.
- Research using zebrafish models revealed that knocking down KMT2D resulted in severe developmental issues across multiple tissues, while KDM6A and its paralogs had specific defects in brain and craniofacial development, indicating their critical roles in organ formation related to KS
