Independent · cited · trilingual
The evidence log.
Dated entries recording what changed on this site and why, each tied to a checkable source. When medicine moves, this page moves with it.
Why a log, and not a blog.
Every medical page here states a review date and its sources. When understanding shifts, pages change, and the change gets recorded here with the reason. An evidence log is slower than a blog and far more honest for families who need to know what they read is current.
2026-09-11
DMRT2 confirmed as a seventh SCDO gene, and the phenotype may be wider
A second biallelic DMRT2 case (AJMG, Feb 2026) repeats the severe spine-rib pattern and adds thymic aplasia and immunodeficiency.
2026-08-30The guide relaunched as an independent, cited site
What we built, what sources it stands on, and the standards every page here follows.