Global Presence and Penetrance of CSF1R -Related Disorder.

Jarosław Dulski Matthew Baker Samantha A Banks Michael Bayat Rose BruffaertsGabriela Ortiz CruzCaio Cesar Diniz DisserolKristen S FisherJainy N JoseBernadette KalmanOrhun H KantarciDmytro MaltsevCatherine MiddletonGabriela NovotniDijana Plaseska-KaranfilskaSalmo RaskinJosiane SouzaHélio Augusto Guizoni Teive Zbigniew K Wszolek

Published in: Neurology. Genetics (2024)

-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.

Keyphrases

copy number
risk factors
genome wide
gene expression