Clinical Presentation and Diagnosis of Smith-Lemli-Opitz Syndrome: First Case Report from Sudan
Background: Smith-Lemli-Opitz syndrome (SLOS) is a congenital autosomal recessive disorder characterized by defective cholesterol metabolism, attributable to a deficiency of the enzyme 7-dehydrocholesterol reductase (DHCR7) caused by mutations in the DHCR7 gene maps to chromosome 11q13. SLOS is lin...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Knowledge E
2025-06-01
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| Series: | Sudan Journal of Medical Sciences |
| Subjects: | |
| Online Access: | https://knepublishing.com/index.php/SJMS/article/view/17380 |
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