Mutations obstructing ATP's emplacement in KIF2A nucleotide‐binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability

BACKGROUND: KIF2A‐related tubulinopathy (MIM: #615411) is a very rare disorder that was clinically characterized as microcephaly, epilepsy, motor developmental disorder (MDD), and various malformations of cortical development, but intellectual disability (ID) or global developmental delay (GDD) was...

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Detalles Bibliográficos
Autores principales: Zhao, Xiuying, Chen, Tao, Fu, Binsha, Fu, Zhifu, Xu, Kaishou, Zhou, Wei
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/PMC10568378/
https://www.ncbi.nlm.nih.gov/pubmed/37331001
http://dx.doi.org/10.1002/mgg3.2225

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