P371: Pathogenic variant in DACH1 may cause a new neurodevelopmental syndrome with hearing loss and nephropathy by Nobuhiko Okamoto, Eriko Nishi, Kumiko Yanagi, Tadashi Kaname

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P392: Mixed and blended phenotype of Sotos syndrome and KBG syndrome: Clinical features in a girl with both syndromes by Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto

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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression by Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima

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Long-read sequencing reveals novel isoform-specific eQTLs and regulatory mechanisms of isoform expression in human B cells by Yuya Nagura, Mihoko Shimada, Ryoji Kuribayashi, Ko Ikemoto, Hiroki Kiyose, Arisa Igarashi, Tadashi Kaname, Motoko Unoki, Akihiro Fujimoto

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X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief... by Serena Hamanaka, MD, Toru Uchiyama, MD, PhD, Tadashi Kaname, MD, PhD, Motohiro Matsui, MD, Hiroshi Yoshihashi, MD, Atsushi Makimoto, MD, PhD, Yuki Yuza, MD, Akira Ishiguro, MD

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