A study identifies a homozygous intronic variant in the TNFRSF11B gene linked to early-onset juvenile Paget disease. This research provides insights into the genetic underpinnings of the disease over a two-year follow-up period.
early onset juvenile paget disease associated with a homozygous intronic tnfrsf11b variant a 2 year follow up
Original title: “Early-onset juvenile Paget disease associated with a homozygous intronic TNFRSF11B variant: a 2-year follow-up.”