Results 31 to 40 of about 10,371 (225)
Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks [PDF]
Mov Disord Clin Pract, 2023 Özge Berna Gültekin‐Zaim +5 more
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Atypical features in two adult patients with Cockayne syndrome and analysis of genotype–phenotype correlation [PDF]
Chin Med J (Engl), 2023 Hao‐Ling Cheng +3 more
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Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report [PDF]
Revista Brasileira de Anestesiologia, 2020 Cockayne syndrome is an autosomal recessive multi-systemic disorder due to DNA repair failure. It was originally described in 1936 in children of small stature, retinal atrophy and deafness, characterized by dwarfism, cachexia, photosensitivity ...
Viviane Barrada Ribeiro +5 more
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Xeroderma Pigmentosum-Cockayne Syndrome Complex [PDF]
Indian J Med Res, 2020 Dev N, Aggarwal P.
europepmc +4 more sources
Brazilian Journal of Health Review, 2022 INTRODUÇÃO: A Síndrome de Cocayne (SC) é um distúrbio raro, hereditário, autossômico recessivo que está associado a mutações em dois genes envolvidos no reparo do DNA. Ela é caracterizada por alterações, como nanismo, atraso no desenvolvimento neuropsicomotor, deficiência intelectual, marcha deficiente, anomalias oculares, microcefalia e surdez ...
Cabral, Clara Elyades Araújo +22 more
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Cells, 2021 Cockayne syndrome (CS) is a DNA repair syndrome characterized by a broad spectrum of clinical manifestations such as neurodegeneration, premature aging, developmental impairment, photosensitivity and other symptoms. Mutations in Cockayne syndrome protein
Zoi Spyropoulou +7 more
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Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing. [PDF]
PLoS ONE, 2014 Cockayne syndrome (CS) is a rare autosomal recessive disorder, the primary manifestations of which are poor growth and neurologic abnormality. Mutations of the ERCC6 and ERCC8 genes are the predominant cause of Cockayne syndrome, and the ERCC6 gene ...
Shanshan Yu +8 more
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Cockayne's syndrome and emphysema. [PDF]
Archives of Disease in Childhood, 1978 A 5-year-old boy with Cockayne's syndrome is described. In addition to the recognised clinical features, he presented with severe fixed airways obstruction, and investigations confirmed clinical and physiological emphysema. In a disorder associated with many of the features of aging, it is probably that the presence of relative alpha-1-antitrypsin ...
W M Moffat, S Godfrey, M Cunningham
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Adult diagnosis of Cockayne syndrome [PDF]
Neurology, 2019 A 20-year-old woman presented with bilateral upper limb tremor, mild dystonia, and dysphonia (video). She had dermal photosensitivity, crowded facial features, short stature, and mild intellectual disability. Family history was unremarkable. Brain MRI and CT scan revealed subcortical white matter abnormalities and calcifications in the cortical sulci ...
Antoniangela Cocco +4 more
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The sequence-specific transcription factor c-Jun targets Cockayne syndrome protein B to regulate transcription and chromatin structure. [PDF]
PLoS Genetics, 2014 Cockayne syndrome is an inherited premature aging disease associated with numerous developmental and neurological defects, and mutations in the gene encoding the CSB protein account for the majority of Cockayne syndrome cases.
Robert J Lake +6 more
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