Disorders of cholesterol biosynthesis
Open Access
- 1 February 1998
- journal article
- review article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 78 (2) , 185-189
- https://doi.org/10.1136/adc.78.2.185
Abstract
Given these functions of cholesterol, it is not surprising that disorders of cholesterol biosynthesis can lead to syndromes featuring major malformations, low maternal oestriol concentrations, failure of development of male external genitalia due to testosterone deficiency, and mental retardation associated with hypomyelination of the central nervous system.Keywords
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