DHCR7 and Smith-Lemli-Opitz syndrome.

M J Nowaczyk, L M Nakamura, J S Waye

Journal: Clinical and investigative medicine. Medecine clinique et experimentale 2002;24(6):311-7

PMID: 11767235

Abstract

Address: Department of Pathology and Molecular Medicine, McMaster University and Hamilton Regional Laboratory Medicine Program, Ont. [email protected]

Link outs

Free resources

Miscellaneous:

https://assays.cancer.gov/CPTAC-353

Molecular Biology Databases:

https://biocyc.org/gene?orgid=HUMAN&id=HS10588

MeSH Terms: Child, Preschool, Cholesterol, Genetic Carrier Screening, Humans, Male, Mutation, Oxidoreductases, Oxidoreductases Acting on CH-CH Group Donors, Phenotype, Prenatal Diagnosis, Smith-Lemli-Opitz Syndrome

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