Sjögren Larsson syndrome: A case study with unique mutation
Background: Sjogren–Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the triad of ichthyosis, intellectual disability, and spastic quadriplegia or diplegia. Methods: Here, we report the case of a six-year-old female born to consanguineous parents who presented with an abnor...
| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
Elsevier
2024-03-01
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| coleção: | Brain Disorders |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2666459324000015 |