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Updated: Jan 18, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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COL2A1和COL11A1患者的基因型-表型相关性

Antoine Constant1, Alejandra Daruich2, Federico Bernabei1

  • 1From the Service d'ophtalmologie (Ophtalmopôle) Hôpital Cochin, AP-HP (A.C., F.B., A.P.B., P.R.R.), Paris; Assistance Publique-Hôpitaux de Paris, Université de Paris, Sorbonne Paris Cité (A.C., F.B., A.P.B., P.R.R.), Paris.

American journal of ophthalmology
|September 10, 2025
PubMed
概括

由于 COL11A1 变种而患有斯蒂克勒综合征的患者可能会出现比 COL2A1 变种患者更严重的眼睛问题,包括聋和较长的轴长度. 这表明基因型-表型相关性可以指导Stickler综合征的个性化管理.

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