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Updated: Sep 9, 2025

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
10:23

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

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纤维发育不良症/麦昆-阿尔布赖特综合征患者的基因型-表型相关性

Jiang Xue1, Xuefen Li2, Yanrui Feng2

  • 1Department of Oral Pathology, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing, China.

Oral diseases
|September 1, 2025
PubMed
概括

这项研究没有发现中国患者面纤维发育不良症/ 麦昆- 阿尔布赖特综合征 (FD/ MAS) 的基因型- 现象型相关性. 最常见的是R201H变体,活跃的病变表明早期发病和潜在的并发症.

关键词:
在GNAS中发生突变麦库恩-阿尔布赖特综合征纤维发育不良症基因型与表型的相关性

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