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https://observatorio.fm.usp.br/handle/OPI/33516| 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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|---|---|---|---|---|
| art_RAMOS_Heterozygous_loss_of_function_of_NR4A2_is_associated_2019.PDF | publishedVersion (English) | 156.82 kB | Adobe PDF |  View/Open |
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