Associated Papers
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
Park JE et al.
Orphanet Journal of Rare Diseases, 2021
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Boland MR et al.
The Pharmacogenomics Journal, 2016
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
Matsumoto Y et al.
Journal of Human Genetics, 2005
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