Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan by Nobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada

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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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Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait by Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto

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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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Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis by Yusuke Goto, Tetsuya Niihori, Seiji Mizuno, Nobuhiko Okamoto, Tsutomu Ogata, Kenji Kurosawa, Hirofumi Ohashi, Yoichi Matsubara, Taiki Abe, Atsuo Kikuchi, Yoko Aoki

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Laparoscopic low anterior resection for rectal cancer associated with Leriche syndrome: a case report by Ryo Nakanishi, Atsuko Tsutsui, Hiroto Tanaka, Kohei Mishima, Chie Hagiwara, Takahiro Ozaki, Kazuharu Igarashi, Satoru Ishii, Nobuhiko Okamoto, Kenji Omura, Go Wakabayashi

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Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature by Takeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, Naoto Nishimura, Masamune Sakamoto, Li Fu, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Kazuhiko Nakabayashi, Satoko Miyatake, Naomichi Matsumoto

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