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