@misc{indiciae0b01f206ee39, title = {A novel variant combination in COASY associates with severe prenatal onset PCH12: expanding the clinical and genetic spectrum.}, author = {Lindsey Walker and Linda M Randolph and Miao Sun}, year = {2026}, doi = {10.1007/s11684-026-1241-z}, url = {https://pubmed.ncbi.nlm.nih.gov/42387110/}, note = {Source identifier: 42387110} }