cockayne syndrome
نویسندگان
چکیده
how to cite this article: javadzadeh m. cockayne syndrome. iran j child neurol. autumn 2014;8;4(suppl.1):18-19. pls see pdf.
منابع مشابه
Neuroimaging in Cockayne syndrome.
CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and photosensitivity. We describe the neuroimaging features (MR imaging, ¹H-MR spectroscopy, and CT) in the various clinical subtypes of CS from a cohort of genetically and biochemically proved cases. Hypomyelination, calcifications, and brain atrophy were t...
متن کاملXeroderma pigmentosum-Cockayne syndrome complex
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP an...
متن کاملCockayne syndrome: a case report.
A 4-year-old female with Cockayne syndrome presented for cataract extraction under general anesthesia. She was thin and frail; her neck, epiglottis and larynx were stiff; she was deaf and blind; and she could not speak, sit unaided, or perspire. At the time of her admission, she weighed 5.5 kg. Cockayne syndrome is a disease of childhood characterized by mental retardation and premature aging. ...
متن کاملReduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells.
The hereditary disease Cockayne syndrome (CS) is a complex clinical syndrome characterized by arrested post-natal growth as well as neurological and other defects. The CSA and CSB genes are implicated in this disease. The clinical features of CS can also accompany the excision repair-defective hereditary disorder xeroderma pigmentosum (XP) from genetic complementation groups B, D or G. The XPB ...
متن کاملCockayne syndrome: defective repair of transcription?
In the past years, it has become increasingly evident that basal metabolic processes within the cell are intimately linked and influenced by one another. One such link that recently has attracted much attention is the close interplay between nucleotide excision DNA repair and transcription. This is illustrated both by the preferential repair of the transcribed strand of active genes (a phenomen...
متن کاملCockayne Syndrome: Role of Genetic Counselling.
Cockayne's Syndrome (CS) is a rare autosomal recessive disorder characterized by deficiency in the transcription-couple DNA repair pathway caused by mutations in the genes ERCC6 in 65% of individuals and ERCC8 in 35% of individuals. Here we report a rare case of Cockayne's syndrome in a girl who presented with hallmark features specific to the syndrome. Dissemination of our knowledge about clin...
متن کاملمنابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
iranian journal of child neurologyجلد ۸، شماره ۴، صفحات ۱۸-۱۹
کلمات کلیدی
میزبانی شده توسط پلتفرم ابری doprax.com
copyright © 2015-2023