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Updated: May 5, 2026

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一个严重的心肌脊髓皮面部综合征病例与一种新的MAP3K7变体

Hiromi Nyuzuki1,2, Junichi Ozawa3, Keisuke Nagasaki3

  • 1Department of Pediatrics, Niigata University Medical and Dental Hospital, Niigata, Japan. nyuzuki@med.niigata-u.ac.jp.

Human genome variation
|February 21, 2024
PubMed
概括

心血管皮面部综合征 (CSCFS) 是一种罕见的先天性疾病. 在严重的CSCFS病例中发现了一种新的MAP3K7基因变异,p.Thr187Ile,可能会影响TGF-β信号通路.

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