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Title: Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
Authors: RAMOS, Luiza L. P.MONTEIRO, Fabiola P.SAMPAIO, Leticia P. B.COSTA, Larissa A.RIBEIRO, Mara D. O.FREITAS, Erika L.KITAJIMA, Joao P.KOK, Fernando
Citation: CLINICAL CASE REPORTS, v.7, n.8, p.1582-1584, 2019
Abstract: 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.
Appears in Collections:Artigos e Materiais de Revistas Científicas - FM/MNE
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/15

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