Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7

Neuronal ceroid lipofuscinoses (NCLs) are among the most common progressive encephalopathies of childhood. Neuronal ceroid lipofuscinosis 7 (CLN7), one of the late infantile-onset NCLs, is an autosomal recessive disorder caused by mutations in the MFSD8 gene on chromosome 4q28. Almost all reported m...

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Detalles Bibliográficos
Autores principales: Qiao, Yimeng, Gu, Yang, Cheng, Ye, Su, Yu, Lv, Nan, Shang, Qing, Xing, Qinghe
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/PMC8826235/
https://www.ncbi.nlm.nih.gov/pubmed/35154277
http://dx.doi.org/10.3389/fgene.2022.807515

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8826235/
https://www.ncbi.nlm.nih.gov/pubmed/35154277
http://dx.doi.org/10.3389/fgene.2022.807515

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