MN1 Neurodevelopmental Disease-Atypical Phenotype Due to a Novel Frameshift Variant in the MN1 Gene

Background: MN1 C-terminal truncation (MCTT) syndrome is caused by variants in the C-terminal region of MN1, which were first described in 2020. The clinical features of MCTT syndrome includes severe neurodevelopmental and brain abnormalities. We reported on a patient who carried the MN1 variant in...

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Detalles Bibliográficos
Autores principales: Tian, Qi, Shu, Li, Zhang, Pu, Zeng, Ting, Cao, Yang, Xi, Hui, Peng, Ying, Wang, Yaqin, Mao, Xiao, Wang, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8716923/
https://www.ncbi.nlm.nih.gov/pubmed/34975401
http://dx.doi.org/10.3389/fnmol.2021.789778

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8716923/
https://www.ncbi.nlm.nih.gov/pubmed/34975401
http://dx.doi.org/10.3389/fnmol.2021.789778

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