Ontology highlight
ABSTRACT:
SUBMITTER: Ramos LLP
PROVIDER: S-EPMC6693049 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
Clinical case reports 20190711 8
Recognition of a de novo mutation in <i>NR4A2</i> associated with a neurodevelopmental phenotype reinforces its role in 2q23q24 microdeletion syndrome. Using the proband WES data and the probability of loss-of-function intolerance index (pLi) set at 1.0 (highest intolerance constraint), we could target <i>NR4A2</i> as the candidate gene in this patient. ...[more]