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Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)

[Image: see text] INTRODUCTION: The CSF1R gene encodes the receptor for colony-stimulating factor-1, the macrophage, and monocyte-specific growth factor. Mutations in this gene cause hereditary diffuse leukoencephalopathy with spheroids (HDLS) with autosomal dominant inheritance and BANDDOS (Brain A...

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Detalles Bibliográficos
Autores principales: Daghagh, Hossein, Rahbar Kafshboran, Haniyeh, Daneshmandpour, Yousef, Nasiri Aghdam, Maryam, Talebian, Shahrzad, Nouri Nojadeh, Jafar, Hamzeiy, Hamid, Biskup, Saskia, Sakhinia, Ebrahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tabriz University of Medical Sciences (TUOMS Publishing Group) 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329754/
https://www.ncbi.nlm.nih.gov/pubmed/37431483
http://dx.doi.org/10.34172/bi.2022.23528