| Autor: |
Kaub, Peter A., Sharp, Peter C., Fletcher, Janice M. |
| Zdroj: |
Pathology; January 2014, Vol. 46 Issue: 1, Number 1 Supplement 1 pS53-S53, 1p |
| Abstrakt: |
Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder of cholesterol synthesis due to deficiency in 7-dehydrocholesterol (7-DHC) reductase. SLO is associated with specific dysmorphology, microcephaly, syndactyly, cleft palate, growth retardation, genital ambiguity and intellectual disability with autistic features. The autistic features respond to cholesterol supplementation. Increased levels of 7-DHC are a marker for SLO and routinely used for testing of autistic children. |
| Databáze: |
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