Article
Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci.
European journal of medical genetics - 1 Jun 2020
Bhoj Elizabeth J, Rajabi Farrah, Baker Samuel W, Santani Avni, Tan Wen-Hann
Abstract excerpt
Human imprinting disorders cause a range of dysmorphic and neurocognitive phenotypes, and they may elude traditional molecular diagnosis such exome sequencing. The discovery of novel disorders related to imprinted genes has lagged behind traditional Mendelian disorders because current diagnostic technology, especially unbiased testing, has limited utility in their discovery. To identify novel imprinting...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.