Variant: rs1331331095 

    present in Gene: DHCR7
    present in Chromosome: 11
    Position on Chromosome: 71435394
    Alleles of this Variant: A/C;T

rs1331331095 in DHCR7 gene and Dysmorphic features PMID 10807690 2000 The Smith-Lemli-Opitz syndrome.

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

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

PMID 21777499 2011 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 22438180 2012 Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

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

PMID 23918729 2013 Brain magnetic resonance imaging findings in 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 8259166 1994 Defective cholesterol biosynthesis associated with 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 23042628 2012 Mutational spectrum of Smith-Lemli-Opitz syndrome.

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

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

PMID 11241839 2001 Mutations in the human DHCR7 gene.

rs1331331095 in DHCR7 gene and Multiple congenital anomalies 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 18285838 2008 Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.

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

PMID 15286151 2004 Maternal apo E genotype is a modifier of the 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 22438180 2012 Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

PMID 10807690 2000 The Smith-Lemli-Opitz syndrome.

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

PMID 11241839 2001 Mutations in the human DHCR7 gene.

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

PMID 21777499 2011 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 8259166 1994 Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

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