1.
Clin Case Rep
; 7(8): 1582-1584, 2019 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31428396
RESUMO
Recognition of a de novo mutation in NR4A2 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 NR4A2 as the candidate gene in this patient.