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Milder presentation of autosomal dominant fatty acyl CoA reductase 1‐related syndrome: Report of the first Middle Eastern patient and review of the literature
The FAR1‐related phenotypes caused by the FAR1 gene encodes the peroxisomal protein fatty acyl‐CoA reductase 1 (FAR1), which is required to reduce fatty acids to fatty alcohols used to form ether‐linked alkyl bonds. Biallelic loss‐of‐function variants have been associated with severe psychomotor dev...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9562384/ https://www.ncbi.nlm.nih.gov/pubmed/36254151 http://dx.doi.org/10.1002/ccr3.6307 |