Add to ORKGSmith-Lemli-Opitz syndrome (SLOS, OMIM 270400) is anautosomal recessive disorder of cholesterol biosynthesisresulting from deficient 3β-hydroxysterol ∆7-reductase (DHCR7) activity.1 2 Patients with SLOS have a characteristic facial phenotype, various degrees of cleft palate and of syndactyly of toes 2 and 3, failure to thrive, behavioural prob-lems, and mental retardation in addition to variable combina-tions of external and internal malformations.3–5 The spectrum of severity extends from prenatal death with holoprosen-cephaly or other lethal malformations to minimally physically affected patients with normal intelligence or minimal intellectual impairment. Most patients with SLOS have abnormally low levels of plasma cholesterol and all hav...
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis...
The Smith-Lemli-Opitz syndrome (SLOS) is are autosomal recessive disorder of cholesterol biosynthesi...
Background: Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic diso...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple malformation and intellectual d...
BACKGROUND: The Smith-Lemli-Opitz (SLO) syndrome is a multiple congenital anomaly with mental retard...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol metabolism first...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol metabolism first...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol metabolism first...
INTRODUCTION: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol b...
INTRODUCTION: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol bi...
SummarySmith-Lemli-Opitz syndrome (SLOS), an autosomal recessive malformation syndrome, ranges in cl...
Item does not contain fulltextSmith--Lemli--Opitz syndrome (SLOS) is caused by mutations in the DHCR...
The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an ov...
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis...
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis...
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis...
The Smith-Lemli-Opitz syndrome (SLOS) is are autosomal recessive disorder of cholesterol biosynthesi...
Background: Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic diso...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple malformation and intellectual d...
BACKGROUND: The Smith-Lemli-Opitz (SLO) syndrome is a multiple congenital anomaly with mental retard...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol metabolism first...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol metabolism first...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol metabolism first...
INTRODUCTION: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol b...
INTRODUCTION: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol bi...
SummarySmith-Lemli-Opitz syndrome (SLOS), an autosomal recessive malformation syndrome, ranges in cl...
Item does not contain fulltextSmith--Lemli--Opitz syndrome (SLOS) is caused by mutations in the DHCR...
The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an ov...
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis...
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis...
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis...
The Smith-Lemli-Opitz syndrome (SLOS) is are autosomal recessive disorder of cholesterol biosynthesi...
Background: Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic diso...
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