RSH/Smith–Lemli–Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis
FD Porter - Molecular genetics and metabolism, 2000 - Elsevier
The RSH/Smith–Lemli–Opitz syndrome (RSH/SLOS) is an autosomal recessive multiple
congenital anomaly/mental retardation syndrome caused by an inborn error of cholesterol
biosynthesis. The RSH/SLOS phenotypic spectrum is broad; however, typical features
include microcephaly, ptosis, a small upturned nose, micrognathia, postaxial polydactaly,
second and third toe syndactaly, genital anomalies, growth failure, and mental retardation.
RSH/SLOS is due to a deficiency of the 3β-hydroxysterol Δ7-reductase, which catalyzes the …
congenital anomaly/mental retardation syndrome caused by an inborn error of cholesterol
biosynthesis. The RSH/SLOS phenotypic spectrum is broad; however, typical features
include microcephaly, ptosis, a small upturned nose, micrognathia, postaxial polydactaly,
second and third toe syndactaly, genital anomalies, growth failure, and mental retardation.
RSH/SLOS is due to a deficiency of the 3β-hydroxysterol Δ7-reductase, which catalyzes the …
