Clinical diagnosis of the Smith-Lemli-Opitz type I syndrome. Case Report
With a low incidence, the relatively recent finding that the Smith-Lemli-Opitz syndrome is caused by a disorder of cholesterol metabolism, increases its interest as an expression of a new path for better knowledge of monogenic syndromes with multiple malformations. It presents the case of a six mont...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Editorial Ciencias Médicas
2018-03-01
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| Series: | Acta Médica del Centro |
| Subjects: | |
| Online Access: | http://www.revactamedicacentro.sld.cu/index.php/amc/article/view/777 |