Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features

OBJECTIVE: We proposed that the deficit of ACC1 is the cause of patient symptoms including global developmental delay, microcephaly, hypotonia, and dysmorphic facial features. We evaluated the possible disease-causing role of the ACACA gene in developmental delay and investigated the pathogenesis of...

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Detalles Bibliográficos
Autores principales: Lou, Xiaoting, Zhou, Xiyue, Li, Haiyan, Lu, Xiangpeng, Bao, Xinzhu, Yang, Kaiqiang, Liao, Xin, Chen, Hanxiao, Fang, Hezhi, Yang, Yanling, Lyu, Jianxin, Zheng, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8450402/
https://www.ncbi.nlm.nih.gov/pubmed/34552920
http://dx.doi.org/10.3389/fcell.2021.618492

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8450402/
https://www.ncbi.nlm.nih.gov/pubmed/34552920
http://dx.doi.org/10.3389/fcell.2021.618492

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