MeSH term
Frequency | Condition_Probility | Diagnosis, Differential | 3 | 0.0 |
Humans | 39 | 0.0 |
Child, Preschool | 9 | 0.0 |
Fatal Outcome | 3 | 0.0 |
Infant | 9 | 0.0 |
Karyotyping | 2 | 0.0 |
Male | 18 | 0.0 |
Cholesterol/blood | 4 | 0.0 |
Female | 19 | 0.0 |
*Mutation | 6 | 0.0 |
Oxidoreductases/*genetics | 13 | 14.0 |
*Oxidoreductases Acting on CH-CH Group Donors | 23 | 24.0 |
Phenotype | 8 | 0.0 |
Smith-Lemli-Opitz Syndrome/*genetics/pathology | 3 | 100.0 |
Cholesterol/biosynthesis | 2 | 13.0 |
Heterozygote Detection | 3 | 0.0 |
Mutation | 7 | 0.0 |
Oxidoreductases/deficiency/*genetics | 3 | 25.0 |
Research Support, Non-U.S. Gov't | 24 | 0.0 |
Dehydrocholesterols/blood | 5 | 83.0 |
Infant, Newborn | 7 | 0.0 |
Smith-Lemli-Opitz Syndrome/*diagnosis | 2 | 100.0 |
Base Sequence | 3 | 0.0 |
Fetus | 2 | 0.0 |
Genotype | 9 | 0.0 |
Homozygote | 2 | 0.0 |
Oxidoreductases/genetics | 2 | 5.0 |
Point Mutation | 2 | 0.0 |
Animals | 5 | 0.0 |
Disease Models, Animal | 2 | 0.0 |
Mice | 3 | 0.0 |
Receptors, LDL/genetics | 2 | 2.0 |
Research Support, U.S. Gov't, P.H.S. | 11 | 0.0 |
Genetic Screening | 3 | 0.0 |
Mutation/*genetics | 3 | 0.0 |
Child | 6 | 0.0 |
Incidence | 2 | 0.0 |
Severity of Illness Index | 3 | 0.0 |
DNA Mutational Analysis | 9 | 0.0 |
Exons | 3 | 0.0 |
Gene Deletion | 2 | 0.0 |
Heterozygote | 4 | 0.0 |
Mutation, Missense | 2 | 0.0 |
RNA Splicing | 2 | 0.0 |
Smith-Lemli-Opitz Syndrome/*genetics | 9 | 81.0 |
Dehydrocholesterols/metabolism | 2 | 66.0 |
*Mutation, Missense | 2 | 0.0 |
Pedigree | 3 | 0.0 |
Adult | 7 | 0.0 |
Dehydrocholesterols/analysis | 2 | 100.0 |
Pregnancy | 7 | 0.0 |
Alleles | 7 | 0.0 |
Face/abnormalities | 2 | 3.0 |
Gene Frequency/genetics | 2 | 0.0 |
Oxidoreductases Acting on CH-CH Group Donors/genetics | 2 | 66.0 |
Gene Frequency | 2 | 0.0 |
Polymorphism, Single-Stranded Conformational | 3 | 0.0 |
*Heterozygote | 2 | 0.0 |
Polymerase Chain Reaction | 3 | 0.0 |
Cholesterol/*biosynthesis | 3 | 16.0 |
Molecular Biology | 2 | 0.0 |
Oxidoreductases/deficiency/genetics | 2 | 66.0 |
Dehydrocholesterols/*blood | 2 | 100.0 |
Adolescent | 3 | 0.0 |
Cell Line | 3 | 0.0 |
Exons/genetics | 2 | 0.0 |
Cholesterol/analysis | 2 | 4.0 |
*Chorionic Villi Sampling | 2 | 8.0 |
Italy | 2 | 0.0 |
Amino Acid Sequence | 5 | 0.0 |
*Chromosomes, Human, Pair 11 | 2 | 0.0 |
Cloning, Molecular | 4 | 0.0 |
Molecular Sequence Data | 5 | 0.0 |
Sequence Homology, Amino Acid | 3 | 0.0 |
Chromosome Mapping | 3 | 0.0 |
Sequence Alignment | 2 | 0.0 |
Oxidoreductases Acting on CH-CH Group Donors/*genetics | 2 | 50.0 |
