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Publication | Open Access

Global Presence and Penetrance of <i>CSF1R</i> -Related Disorder

DOIFull Paper Access

10

Citations

6

References

2024

Year

Jarosław Dulski, Matthew Baker, Samantha A. Banks, Michael Bayat, Rose Bruffaerts, Gabriela Cruz, Caio César Diniz Disserol, Kristen S. Fisher, Jainy N. Jose, Bernadette Kalman,
Neurology Genetics

Abstract

<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.

References

YearCitations

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