Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene

FOXP1 syndrome is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and language delay, with or without autistic features. Several splicing variants have been reported for this condition, but most of them lack functional evidence, and the actual...

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Detalles Bibliográficos
Autores principales: Chen, Min, Sun, Yixi, Qian, Yeqing, Chen, Na, Li, Hongge, Wang, Liya, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388729/
https://www.ncbi.nlm.nih.gov/pubmed/35991577
http://dx.doi.org/10.3389/fgene.2022.926070

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388729/
https://www.ncbi.nlm.nih.gov/pubmed/35991577
http://dx.doi.org/10.3389/fgene.2022.926070

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