P288: Mosaic genome-wide paternal uniparental isodisomy and PAH pathogenic variant identified in an infant with macrosomia, omphalocele, hepatomegaly and cardiac anomalies
Allissia Gilmartin,
Elizabeth Chao,
Kathryn Singh,
Natalie Gallant
Affiliations
Allissia Gilmartin
University of California, Irvine
Elizabeth Chao
University of California, Irvine and Department of Medical Sciences, Ambry Genetics, Aliso Viejo, CA
