Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case

The DIAPH1 gene fulfills critical immune and neurodevelopmental roles. It encodes the mammalian Diaphanous-related formin (mDia1) protein, which acts downstream of Rho GTPases to promote F-actin polymerization and stabilize microtubules. During mitosis, this protein is expressed in human neuronal pr...

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Detalles Bibliográficos
Autores principales: Esmaeilzadeh, Hossein, Noeiaghdam, Rafat, Johari, Leila, Hosseini, Seyed Ali, Nabavizadeh, Sayyed Hesamedin, Alyasin, Soheila Sadat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537009/
https://www.ncbi.nlm.nih.gov/pubmed/36212620
http://dx.doi.org/10.1155/2022/4142214

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537009/
https://www.ncbi.nlm.nih.gov/pubmed/36212620
http://dx.doi.org/10.1155/2022/4142214

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