関連する実験動画

Updated: Sep 10, 2025

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
09:20

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Published on: December 18, 2019

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多発性骨格不全症候群を呈する稀な症例における遺伝子型-フェノタイプ相関の洞察

Christos Yapijakis1,2, Iphigenia Gintoni1,2, Myrsini Chamakioti1,2

  • 1Unit of Orofacial Genetics, 1st Department of Pediatrics, School of Medicine, National Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, 115 27 Athens, Greece.

Genes
|August 28, 2025
PubMed
まとめ

この研究は,先端の遺伝子検査で特定された,多重の共存性骨格不全症候群を持つ 48歳の女性の珍しい症例を報告しています. これらの複雑な骨疾患の管理には 早期の遺伝子検査が不可欠です

キーワード:
Wnt パスウェイ骨の密度骨発育不全遺伝子検査分子モデリングオステオディスプラスティック症候群オステオゲネシス骨格の異常

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