Global Presence and Penetrance of <i>CSF1R</i> -Related Disorder
<i>CSF1R</i>-RD has a global prevalence. The reasons for negative family history include de novo variants (as shown by the haplotype analysis), mosaicism, and incomplete penetrance, which are possibly modulated by environmental and genetic factors.
Authors
- Gabriela Novotni (ORCID: https://orcid.org/0000-0002-8552-0376)
- Salmo Raskin (ORCID: https://orcid.org/0000-0002-7191-0592)
- Orhun H. Kantarci (ORCID: https://orcid.org/0000-0001-7038-8133)
- Zbigniew K. Wszołek (ORCID: https://orcid.org/0000-0001-5487-1053)
- Dijana Plaseska‐Karanfilska (ORCID: https://orcid.org/0000-0001-8877-2416)
- Jarosław Dulski (ORCID: https://orcid.org/0000-0002-5517-9875)
- Josiane Souza (ORCID: https://orcid.org/0000-0003-3530-1826)
- Michael Bayat (ORCID: https://orcid.org/0000-0003-1793-390X)
- Rose Bruffaerts (ORCID: https://orcid.org/0000-0002-2631-9234)
- Hélio Afonso Ghizoni Teive (ORCID: https://orcid.org/0000-0003-2305-1073)
- Caio César Diniz Disserol (ORCID: https://orcid.org/0000-0001-7568-0897)
- Samantha A. Banks (ORCID: https://orcid.org/0000-0002-5856-1367)
- Bernadette Kalman
- Catherine Middleton
- Jainy N. Jose
- Matthew Baker
- Dmytro Maltsev
- Kristen S. Fisher
- Gabriela Cruz
Institutions
- Mayo Clinic in Florida (US)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-09-13
- DOI
- https://doi.org/10.1212/nxg.0000000000200187
- Citations
- 11
- Primary Topic
- interferon and immune responses
- Type
- article
- Field-Weighted Citation Impact
- 2.65