Results 151 to 160 of about 4,480 (201)
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome. [PDF]
Am J Med Genet A, 2018 Dang Do AN +4 more
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Normal IQ is possible in Smith-Lemli-Opitz syndrome. [PDF]
Am J Med Genet A, 2017 Eroglu Y +12 more
europepmc +1 more source
Lipid-derived and other oxidative modifications of retinal proteins in a rat model of Smith-Lemli-Opitz syndrome. [PDF]
Exp Eye Res, 2019 Kapphahn RJ +3 more
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Annales de pathologie, 2006
SLO syndrome is an autosomal recessive condition with multiple malformations. This syndrome is ascribed to deficiency of 7 dehydrocholesterol reductase, an enzyme in the cholesterol biosynthetic pathway. The characteristics of this syndrome are facial anomalies, syndactyly of the second and third toe, postaxial polydactyly and genital anomalies with ...
Fanny, Pelluard-Nehmé +5 more
+6 more sources
SLO syndrome is an autosomal recessive condition with multiple malformations. This syndrome is ascribed to deficiency of 7 dehydrocholesterol reductase, an enzyme in the cholesterol biosynthetic pathway. The characteristics of this syndrome are facial anomalies, syndactyly of the second and third toe, postaxial polydactyly and genital anomalies with ...
Fanny, Pelluard-Nehmé +5 more
+6 more sources
Developmental Medicine & Child Neurology, 1968
SMITH, Lemli, and Opitz, in 1964,1reported three patients with mental retardation and a distinctive pattern of multiple congenital anomalies. Subsequently, seven additional patients have been described.2-5 Although four patients with this syndrome have died, no autopsy has been performed upon a patient in whom the diagnosis was made prospectively ...
R N, Fine, J L, Gwinn, E F, Young
openaire +4 more sources
SMITH, Lemli, and Opitz, in 1964,1reported three patients with mental retardation and a distinctive pattern of multiple congenital anomalies. Subsequently, seven additional patients have been described.2-5 Although four patients with this syndrome have died, no autopsy has been performed upon a patient in whom the diagnosis was made prospectively ...
R N, Fine, J L, Gwinn, E F, Young
openaire +4 more sources
2016
Smith-Lemli-Opitz syndrome (SLOS) is characterized by prenatal and postnatal growth retardation, characteristic face, genital and distal limb anomalies, and intellectual disability. There is a weak correlation between the metabolic disturbances with clinical severity and with genotype, but wide ranges exist within each group.
Wen-Hann Tan, Mira B. Irons
+5 more sources
Smith-Lemli-Opitz syndrome (SLOS) is characterized by prenatal and postnatal growth retardation, characteristic face, genital and distal limb anomalies, and intellectual disability. There is a weak correlation between the metabolic disturbances with clinical severity and with genotype, but wide ranges exist within each group.
Wen-Hann Tan, Mira B. Irons
+5 more sources