Erica Aristizábal Lorena Diaz-Ordóñez Estephania Candelo Harry Pachajoa
10.2147/TACG.S317723
Appl Clin Genet
2021 Oct 5;14:409-416.
kabuki syndrome rna splicing coloboma rare disease sensorineural hearing loss
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/34675602/
Case Reports
PMC8502069
34675602
A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report
2021