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Keywords: DYT28
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Journal Articles
Subject Area:
Karger e-Journal Backfile Collection 2023
, Endocrinology
, Further Areas
, Genetics
, Women's and Children's Health
Naoto Sugeno, Takafumi Hasegawa, Kazuhiro Haginoya, Takafumi Kubota, Kensuke Ikeda, Takaaki Nakamura, Shun Ishiyama, Kazuki Sato, Shun Yoshida, Eriko Koshimizu, Mitsugu Uematsu, Satoko Miyatake, Naomichi Matsumoto, Masashi Aoki
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (6): 461–468.
Published Online: 26 June 2023
... disorder typically characterized by lower-limb dystonia and subsequently spreads into the craniocervical and laryngeal muscles. Recently, KMT2B -encoding lysine (K)-specific histone methyltransferase 2B was identified as the causative gene for DYT- KMT2B , also known as DYT28. In addition to the fact...
