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;
D O I：
暂无
中图分类号：
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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