TY  - RPRT
TI  - A novel variant combination in COASY associates with severe prenatal onset PCH12: expanding the clinical and genetic spectrum.
AU  - Lindsey Walker
AU  - Linda M Randolph
AU  - Miao Sun
PY  - 2026
DO  - 10.1007/s11684-026-1241-z
UR  - https://pubmed.ncbi.nlm.nih.gov/42387110/
ID  - 42387110
ER  -