Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary

BACKGROUND: Neurodevelopmental disorders associated with periventricular nodular heterotopia (PVNH) are characterized by phenotypic and genetic heterogeneity. NEDD4L mutation can lead to PVNH7. However, at present, only eight NEDD4L pathogenic variants have been identified across 15 cases of PVNH7 w...

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Detalles Bibliográficos
Autores principales: Liu, Juan, Hu, Jihong, Duan, Yaqing, Qin, Rong, Guo, Chunguang, Zhou, Hongtao, Liu, Hua, Liu, Chunlei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337284/
https://www.ncbi.nlm.nih.gov/pubmed/36934385
http://dx.doi.org/10.1002/mgg3.2169

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337284/
https://www.ncbi.nlm.nih.gov/pubmed/36934385
http://dx.doi.org/10.1002/mgg3.2169

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