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Updated: Sep 9, 2025

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
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Published on: September 8, 2023

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ゲノタイプとフェノタイプの相関 繊維性不形成症/マッキーン・アルバライト症候群の患者

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
まとめ

この研究では,中国人の患者における頭蓋骨繊維性不形成症/マックイーン・アルバライト症候群 (FD/MAS) に関する遺伝子型-現象型相関は認められなかった. R201H型は最も一般的であり,活発な病変は早期発症と潜在的な合併症を示す.

キーワード:
GNAS変異マッキン・アルバライト症候群繊維性発育不全症ゲノタイプ・フェノタイプ相関

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