Title : [Smith-Lemli-Opitz syndrome and hypothyroidism: the first Venezuelan case].

Pub. Date : 2014 Sep

PMID : 25272525






1 Functional Relationships(s)
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1 The severity of physical defects correlates with the severity of the cholesterol deficiency, which is caused by an abnormally low activity of 7-dehydrocholesterol reductase, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. Cholesterol 7-dehydrocholesterol reductase Homo sapiens