Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.

doi:10.1038/ejhg.2008.10

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.

European journal of human genetics : EJHG - 1 May 2008

Porter Forbes D

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7). DHCR7 primarily catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. In SLOS, this results in decreased cholesterol and increased 7DHC levels, both during embryonic development and after birth. The malformations found in SLOS may result from decreased cholesterol, increased...

Topics

Female
Genetic Counseling
Humans
Oxidoreductases Acting on CH-CH Group Donors
Phenotype
Prenatal Diagnosis
Smith-Lemli-Opitz Syndrome

Source

Open in PubMed

Identifiers

PMID: 18285838
DOI: 10.1038/ejhg.2008.10

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics