Article
Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome.
Arthritis and rheumatism - 1 Nov 2005
Saito Megumu, Fujisawa Akihiro, Nishikomori Ryuta, Kambe Naotomo, Nakata-Hizume Mami, Yoshimoto Momoko, Ohmori Katsuyuki, Okafuji Ikuo, Yoshioka Takakazu, Kusunoki Takashi, Miyachi Yoshiki, Heike Toshio, Nakahata Tatsutoshi
Abstract excerpt
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 unclear which genes are responsible for the syndrome in the remaining patients. We describe here a patient with CINCA syndrome who exhibited...
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