【摘 要】
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INTRODUCTIONrnCellular cholesterol amounts are regulated by multiple steps of biosynthesis and feedback mechanisms.1 Infants with cholesterol metabolism aberrat
【机 构】
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Department of Diagnostic & Biomedical Sciences, The University of Texas Health Science Center at Hou
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INTRODUCTIONrnCellular cholesterol amounts are regulated by multiple steps of biosynthesis and feedback mechanisms.1 Infants with cholesterol metabolism aberrations have malformations in the craniofacial region.2-5 For example, mutations in genes involved in cholesterol synthesis (DHCR7, SC5D, and DHCR24) have been found in patients with Smith-Lemli-Opitz Syndrome (SLOS) lathosterolosis, and desmosterolosis, who display craniofacial bone abnormalities.1 In addition, high-cholesterol diets during pregnancy are known to be a risk factor for birth defects, including craniofacial bone abnormalities.6-7 Despite these findings, it remains unclear how cholesterol metabolism contributes to craniofacial bone forma-tion, particularly intramembranous ossification.
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