Article
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
American journal of medical genetics. Part A - 1 Apr 2023
Wigby Kristen, Hammer Monia, Tokita Mari, Patel Priyanka, Jones Marilyn C, Larson Austin, Bartolomei Frances Velez, Dykzeul Natalie, Slavotinek Anne, Yip Tiffany, Bandres-Ciga Sara, Simpson Brittany N, Suhrie Kristen, Shankar Suma, Veith Regan, Bragg Jennifer, Powell Cynthia, Kingsmore Stephen F, Dimmock David, Maron Jill, Davis Jonathan, Del Campo Miguel
Abstract excerpt
Increasing use of unbiased genomic sequencing in critically ill infants can expand understanding of rare diseases such as Kabuki syndrome (KS). Infants diagnosed with KS through genome-wide sequencing performed during the initial hospitalization underwent retrospective review of medical records. Human phenotype ontology terms used in genomic analysis were aggregated and analyzed. Clinicians were surveyed...
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