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Updated: Feb 6, 2026

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案例报告:LSS和TSPEAR基因中的复合异合体变异导致14型低皮质症,并与14型外皮性形症复杂

Yonglong Xu1,2, Dingquan Yang2, Ying Xie1,2

  • 1Beijing University of Chinese Medicine, Beijing, China.

Frontiers in medicine
|February 5, 2026
PubMed
概括

这项研究报告了一名患有14型低三症 (HYPT14) 和14型外皮发育不良症 (ED14) 的儿童,在LSS中呈现复合异体变体,在TSPEAR中呈现异体变体. 这些遗传发现扩大了对外皮异常的理解,并表明了潜在的基因遗传.

关键词:
在LSS中使用LSS.在TSPEAR中使用SPEAR.自体逆行性自体逆行性.案例报告案例报告出生先天性脱发症 (congenital alopecia) 是一种疾病.变种 变种 变种 变种 变种

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