Place de la neuropathie dans le diagnostic précoce du syndrome de Cockayne : à propos de deux cas dans une fratrie
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference17 articles.
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2. A comprehensive description of the severity groups in Cockayne syndrome;Natale;Am J Med Genet Part A,2011
3. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays;Pasquier;Arch Dis Child,2006
4. Cockayne syndrome: review of 25 cases;Özdirim;Pediatr Neurol,1996
5. Deletion of 5′sequences of the CSB gene provids insight into the pathophysiology of Cockayne syndrome;Laugel;Eur J Hum Genet,2008
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome;Neurology Clinical Practice;2024-08
2. Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations;Orphanet Journal of Rare Diseases;2022-03-05
3. Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B;Genes;2021-11-29
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