Associated Papers
Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient.
Yılmaz M et al.
Molecular Syndromology, 2024
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
Peng Y et al.
International Journal of Molecular Sciences, 2018
Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.
Ellingson MS et al.
Clinical Genetics, 2014
Select a paper to view details