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Somatic Mosaicism of CIAS1 in a Patient with Chronic Infantile Neurologic, Cutaneous, Articular Syndrome

✍ Scribed by Saito, M.; Nishikomori, R.; Fujisawa, A.; Kambe, N.; Hizume, M.N.; Okafuji, I.; Yoshioka, T.; Yoshimoto, M.; Omori, K.; Kusunoki, T.; Heike, T.; Miyachi, Y.; Nakahata, T.


Book ID
119276539
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
198 KB
Volume
117
Category
Article
ISSN
1097-6825

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Somatic mosaicism of CIAS1 in a patient
✍ Megumu Saito; Akihiro Fujisawa; Ryuta Nishikomori; Naotomo Kambe; Mami Nakata-Hi πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 430 KB πŸ‘ 2 views

## Abstract Chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) is a severe inflammatory disease that was recently found to be associated with mutations in __CIAS1__. However, __CIAS1__ mutations have been detected in only half of CINCA syndrome patients, and it remains unc