Open AccessHaploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
Molecular Genetics And Genomic MedicinePeer ReviewedLuperchio Teresa Romeo +32020Journals
We present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.
The content you want is available to Zendy users.
Already have an account? Sign inHaving issues? Contact support