E. Dahlen

Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature

P. Chambon, F. Vialard, J. Dupont, 2022, Andrology.

Bifid nose as the sole manifestation of BNAR syndrome, a FREM1‐related condition

F. Alkuraya, L. Van Maldergem, F. Nobili, 2020, Clinical genetics.