A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China

Background: The nucleus accumbens associated 1 (NACC1) gene is a transcription factor member of the BTB/POZ family. A de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 may define a syndrome characterized by intellectual disability, infantile epilepsy, congenital cataract, and feedi...

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Detalles Bibliográficos
Autores principales: Lyu, Baiyu, Dong, Yan, Kang, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8634650/
https://www.ncbi.nlm.nih.gov/pubmed/34869110
http://dx.doi.org/10.3389/fped.2021.754261

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8634650/
https://www.ncbi.nlm.nih.gov/pubmed/34869110
http://dx.doi.org/10.3389/fped.2021.754261

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