Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis
نویسندگان
چکیده
منابع مشابه
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 our knowledge, cholestatic liver disease was not previously reported in these patients. AIM To h...
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چکیده ندارد.
Cockayne syndrome in three sisters with varying clinical presentation.
We report three sisters showing the clinical features and investigational findings of Cockayne syndrome (CS). In the rehabilitation unit of Northwest Armed Forces Hospital (N.W.A.F.H.), Tabuk, Saudi Arabia, there was a 12-year-old girl with typical features of CS. The girl had no apparent problems until the end of the first year when growth and developmental delay prompted medical evaluation. B...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2011
ISSN: 1750-1172
DOI: 10.1186/1750-1172-6-13