Valle(T),Damián(A),Torres(M),Méndez(P),Márqu… Am J Med Genet A 2026-08-00

We report a 5-year-old Spanish male with a homozygous SPOUT1 variant (NM_016390.4:c.1058C>T; p.Thr353Met), identified by...

Kachuei(M),Eghdami(S),Eyvaz-Ziaei(S),Tavasol… Ann Med Surg (Lond) 2026-08-00

SpADMiSS syndrome (SPOUT1-Associated Developmental delay, Microcephaly, Seizures, and Short stature) is a recently descr...