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Updated: Feb 4, 2026

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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Published on: March 10, 2023

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一个罕见的化合物异合体NAGLU基因突变在两个兄弟姐妹的粘多糖类IIibibIIib

Laleh Vahedi-Larijani1, Maryam Sotoudeh Anvari2, Alireza Biglari3

  • 1Department of Pathology, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.

Iranian journal of pathology
|February 2, 2026
PubMed
概括

这份病例报告详细介绍了两名患有桑菲利普波综合征B型,一种罕见的遗传疾病的兄弟姐妹. 他们在NAGLU基因中具有独特的复合异构基因突变,突出显示了对精确遗传诊断的需求.

关键词:
遗传疾病 遗传疾病葡萄糖氨基甘油可以.代谢中的先天性错误智力障碍 智力障碍 智力障碍粘多糖症 IIIB 类型

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