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

Hossein Daghagh , Haniyeh Rahbar Kafshboran, Yousef Daneshmandpour, Maryam Nasiri Aghdam, Shahrzad Talebian, Jafar Nouri Nojadeh, Hamid Hamzeiy, Saskia Biskup, Ebrahim Sakhinia*

Bioimpacts. 2023;13(3): 183-190. doi: 10.34172/bi.2022.23528

PMCID: PMC10329754 PMID: 37431483 Scopus ID: 85171331305

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Regarding the inheritance pattern in the family and clinical manifestations in the index patient, we propose that the mentioned variant in the CSF1R gene may cause BANDDOS.

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