Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment

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 NR4...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693049/
https://www.ncbi.nlm.nih.gov/pubmed/31428396
http://dx.doi.org/10.1002/ccr3.2260

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693049/
https://www.ncbi.nlm.nih.gov/pubmed/31428396
http://dx.doi.org/10.1002/ccr3.2260

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