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A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity
BACKGROUND: A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3941482/ https://www.ncbi.nlm.nih.gov/pubmed/24571530 http://dx.doi.org/10.1186/1471-2350-15-25 |