Article
Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan.
Brain & development - 1 Apr 2026
Shirai Hironao, Oitani Yoshiki, Nishi Eriko, Haraguchi Kohei, Nakamura Takuji, Ichinose Fumio, Sanefuji Masafumi, Hattori Ayako, Yanagi Kumiko, Shimojima Yamamoto Keiko, Okamoto Nobuhiko, Matsuo Muneaki, Saitoh Shinji, Yoshiura Koh-Ichiro, Kaname Tadashi, Yamamoto Toshiyuki
Abstract excerpt
BACKGROUND: Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA binding motif containing 1 (AHDC1) gene. More than 100 patients with XGS have been reported. In this study, we describe the findings from a Japanese cohort of patients with XGS. To enhance understanding, we also conducted a systematic literature review of XGS. METHODS: We collected clinical...
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