PEARLS Blog

June 29

Photography and Presentation: Saturday June 29

DoubleTree by Hilton Hotel Bethesda – Washington DC

For more info.

What is Smith-Lemli-Opitz syndrome (SLOS)?

SLOS is a metabolic disorder caused by a mutation in the DHCR7 (7-dehydrocholesterol reductase) gene on chromosome 11. This gene codes for an enzyme that is involved in the production of cholesterol. People who have SLOS are unable to make enough cholesterol to support normal growth and development.

 

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