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Article

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

Molecular genetics and metabolism - 1 Jan 2001

Battaile K P, Battaile B C, Merkens L S, Maslen C L, Steiner R D

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomaly/mental retardation syndrome of variable severity with an incidence previously estimated at 1 in 20,000-60,000 based on case frequency surveys. Identification of the gene defect in SLOS has made it possible to calculate the carrier frequency and estimate disease incidence using molecular methods to identify carriers. Using a previously described...

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Source

Identifiers

PMID: 11161831
DOI: 10.1006/mgme.2000.3103

Genes

DHCR7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.PMID 11161831Read ↗

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SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.Semantic proximity Read ↗

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