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在患有病原性SASH3变异的男性中,骨质变异不完美,智力障碍和复发性感染

Jun Kido1,2, Tomoyuki Mizukami3, Yohei Misumi4

  • 1Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan. kidojun@kuh.kumamoto-u.ac.jp.

Human genome variation
|September 14, 2025
PubMed
概括

在一个患有病原性SASH3变异的男性患者中,发现了Src Homology 3域含有适应蛋白3 (SASH3) 缺乏,一种X链接的免疫障碍. 这个病例出现了骨问题,智力障碍和反复感染,需要进一步调查.

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