Case report A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome Yan Zhou Qin Zhang Quanze He Guohua Yang Haibo Li Yu An Jul 2026 · Human Genetics · Vol 145 · 0 citations · 37 references Medicine DOI PubMed Semantic Scholar Save View source Cite Copy APA Copied ✓ Copy MLA Copied ✓ Copy BibTeX Copied ✓ Share