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Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis
BACKGROUND: Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract, and sensorineural hearing loss. To the best of...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
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BioMed Central
2011
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| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3083330/ https://ncbi.nlm.nih.gov/pubmed/21477313 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-13 |
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