生物
动脉导管
小眼症
糜酶
表型
内科学
内分泌学
生理学
病理
胃肠病学
遗传学
免疫学
医学
肥大细胞
基因
作者
Christopher Pai,Basil A. McIntosh,Russell H. Knutsen,Mark Levin,Kit Man Tsang,Beth A. Kozel,Robert O. Heuckeroth
标识
DOI:10.1016/j.ydbio.2023.09.007
摘要
BAZ1B is one of 25-27 coding genes deleted in canonical Williams syndrome, a multi-system disorder causing slow growth, vascular stenosis, and gastrointestinal complaints, including constipation. BAZ1B is involved in (among other processes) chromatin organization, DNA damage repair, and mitosis, suggesting reduced BAZ1B may contribute to Williams syndrome symptoms. In mice, loss of Baz1b causes early neonatal death. 89.6% of Baz1b
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