Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation
Sjögren-Larsson syndrome is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, a microsomal enzyme that catalyzes the oxidation of medium- and long-chain aliphatic aldehydes fatty acids. We studied three Turkish Sjögren-Lars...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2012-02-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1592 |
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