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Cockayne syndrome in three sisters with varying clinical presentation

✍ Scribed by Mahmoud, Adel A.H. ;Yousef, George M. ;Al-Hifzi, Ibrahim ;Diamandis, Eleftherios P.


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
150 KB
Volume
111
Category
Article
ISSN
0148-7299

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## Abstract ## Objective To describe biochemical findings and the spectrum of mevalonate kinase (__MVK__) gene mutations as well as an associated __TNFRSF1A__ low‐penetrance variant in a series of patients with clinical features of the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS).