Xeroderma pigmentosum-Cockayne syndrome complex

被引:0
作者
Valerie Natale
Hayley Raquer
机构
[1] Forgotten Diseases Research Foundation,
来源
Orphanet Journal of Rare Diseases | / 12卷
关键词
Xeroderma pigmentosum; Cockayne syndrome; DNA repair demyelinating disease (CNS); Leukodystrophies; Developmental disorders;
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学科分类号
摘要
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 and in Cockayne syndrome without XP to aid management of XP-CS.
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