Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant

Journal of Human Genetics · Published 2026-07-16 · DOI 10.1038/s10038-026-01493-8

Authors (14)

Ayumi Yoshimura, Yoshiteru Azuma, Keisuke Hamada, Mina Nakama, Yasunari Sakai, Kenta Kajiwara, Hiroshi Yamashita, Shimpei Baba, Eriko Koshimizu, Satoko Miyatake, Kazuhiro Ogata, Yoshinao Wada, Naomichi Matsumoto, Nobuhiko Okamoto

Abstract

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Publication details

Year

2026

Citation

Yoshimura, A., Azuma, Y., Hamada, K., et al. (2026). Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant. Journal of Human Genetics. https://doi.org/10.1038/s10038-026-01493-8

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