Associated Papers
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2
Normal IQ is possible in Smith-Lemli-Opitz syndrome.
Eroglu Y et al.
American Journal of Medical Genetics. Part A, 2017
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.
Tamura M et al.
Human Genome Variation, 2017
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
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.
Sparks SE et al.
Journal of Inherited Metabolic Disease, 2014
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Recent insights into the Smith-Lemli-Opitz syndrome.
Yu H et al.
Clinical Genetics, 2005
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
Witsch-Baumgartner M et al.
Human Mutation, 2005
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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