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The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter
Desmosterolosis is a rare autosomal recessive disorder of elevated levels of the cholesterol precursor desmosterol in plasma, tissue and cultured cells. With only two sporadic cases described to date with two very different phenotypes, the clinical entity arising from mutations in 24-dehydrocholeste...
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| Autors principals: | , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2011
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3179370/ https://ncbi.nlm.nih.gov/pubmed/21559050 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.74 |
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