“Hole" Exome Sequences- The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing

We report 3 patients with 3 recognizable phenotypes: a 7-year-old female with classic Rett syndrome, a 28-year-old male with neuropathy, ataxia, and retinitis pigmentosa, and a 16-year-old male with mosaic, segmental, paternal Uniparental Disomy 14 who had non-diagnostic WES.

Source: Pediatric Neurology - December 1, 2023 Category: Neurology Authors: R. Colin McNamara, Sidney Zven, David Horvat, Juvianee Estrada Veras, John Paul Schacht Tags: Short Communication Source Type: research