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Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
Mol Genet Metab. 2000 Sep-Oct;71(1-2):154-62. doi: 10.1006/mgme.2000.3020.
Mol Genet Metab. 2000.
PMID: 11001806
Review.
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.
Battaile KP, Battaile BC, Merkens LS, Maslen CL, Steiner RD.
Battaile KP, et al.
Mol Genet Metab. 2001 Jan;72(1):67-71. doi: 10.1006/mgme.2000.3103.
Mol Genet Metab. 2001.
PMID: 11161831
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