Variant: rs138659167 

    present in Gene: DHCR7
    present in Chromosome: 11
    Position on Chromosome: 71435840
    Alleles of this Variant: C/A;G

rs138659167 in DHCR7 gene and Movement Disorders PMID 21777499 2011 Smith-Lemli-Opitz syndrome.

PMID 9024557 1997 Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.

PMID 23918729 2013 Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

PMID 23042628 2012 Mutational spectrum of Smith-Lemli-Opitz syndrome.

PMID 18285838 2008 Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.

PMID 15286151 2004 Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

PMID 8259166 1994 Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

PMID 11562938 2001 Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

PMID 10677299 2000 Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

PMID 22438180 2012 Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

PMID 16761297 2006 The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

PMID 15464432 2005 Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

PMID 23293579 2012 Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

PMID 16906538 2006 DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

PMID 11241839 2001 Mutations in the human DHCR7 gene.

PMID 10807690 2000 The Smith-Lemli-Opitz syndrome.

rs138659167 in DHCR7 gene and Multiple congenital anomalies PMID 15286151 2004 Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

PMID 15464432 2005 Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

PMID 16906538 2006 DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

PMID 11562938 2001 Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

PMID 23042628 2012 Mutational spectrum of Smith-Lemli-Opitz syndrome.

PMID 22438180 2012 Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

PMID 21777499 2011 Smith-Lemli-Opitz syndrome.

PMID 8259166 1994 Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

PMID 18285838 2008 Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.

PMID 16761297 2006 The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

PMID 23918729 2013 Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

PMID 9024557 1997 Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.

PMID 23293579 2012 Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

PMID 10677299 2000 Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

PMID 10807690 2000 The Smith-Lemli-Opitz syndrome.

PMID 11241839 2001 Mutations in the human DHCR7 gene.

rs138659167 in DHCR7 gene and Smith-Lemli-Opitz Syndrome PMID 10995508 2000 Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

PMID 16983147 2006 Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 10814720 2000 Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

PMID 11427181 2001 Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

PMID 15952211 2005 DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.

PMID 11161831 2001 Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

PMID 24824134 2015 Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.

PMID 11175299 2001 Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

PMID 10710236 2000 Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi.

PMID 15776424 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.

PMID 23042628 2012 Mutational spectrum of Smith-Lemli-Opitz syndrome.

PMID 10677299 2000 Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

PMID 20104611 2010 Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.

PMID 9653161 1998 Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

PMID 9683613 1998 Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

PMID 23293579 2012 Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

PMID 20635399 2010 Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

PMID 21777499 2011 Smith-Lemli-Opitz syndrome.

PMID 22929031 2013 Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.