Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benónísdóttir, Malak Ali Alghamdi, Naif A. M. Almontashiri, Brenda J. Barry, Matthias Begemann, Jacquelyn F. Britton, Sarah Burke, Benjamin Cogné, Ana S.A. Cohen, Carles De Diego Boguñá, Evan E. Eichler, , Hans Tomas Bjornsson
The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.
The American Journal of Human Genetics · Sep 1, 2026Peer-reviewedGenetic & Genomic Medicine