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Article

Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases.

Brain & development - 1 Apr 2018

Itoh Masayuki, Ide Shuhei, Iwasaki Yuji, Saito Takashi, Narita Keishi, Dai Hongmei, Yamakura Shinji, Furue Takeki, Kitayama Hirotsugu, Maeda Keiko, Takahashi Eihiko, Matsui Kiyoshi, Goto Yu-Ichi, Takeda Sen, Arima Masataka

Abstract excerpt

OBJECTIVE: Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD. PATIENTS AND METHODS: We...

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PMID: 29217415
DOI: 10.1016/j.braindev.2017.11.002

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