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2021 2
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Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J, Souza J, Santos ML, Wszolek ZK. Dulski J, et al. Orphanet J Rare Dis. 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. Orphanet J Rare Dis. 2023. PMID: 37349768 Free PMC article. Review.
CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). ...Brain abnorma …
CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosom …
Modeling CSF-1 receptor deficiency diseases - how close are we?
Chitu V, Gökhan Ş, Stanley ER. Chitu V, et al. FEBS J. 2022 Sep;289(17):5049-5073. doi: 10.1111/febs.16085. Epub 2021 Jul 5. FEBS J. 2022. PMID: 34145972 Free PMC article. Review.
Within the last decade, mutations in the CSF1R have been shown to cause rare diseases of both pediatric (Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis, OMIM #618476) and adult (CSF1R-related leukoencephalopathy, OMIM #221820) onset. ...
Within the last decade, mutations in the CSF1R have been shown to cause rare diseases of both pediatric (Brain Abnormalities, …
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.
Guo L, Ikegawa S. Guo L, et al. J Hum Genet. 2021 Dec;66(12):1139-1144. doi: 10.1038/s10038-021-00942-w. Epub 2021 Jun 16. J Hum Genet. 2021. PMID: 34135456 Review.
In addition to leukoencephalopathy of earlier onset than HDLS, the new disease shows brain malformations and skeletal dysplasia compatible with dysosteosclerosis (DOS), thus named "brain abnormalities, neurodegeneration, and dysosteosclerosis …
In addition to leukoencephalopathy of earlier onset than HDLS, the new disease shows brain malformations and skeletal dysplasia compa …