HAL (France)
open access
Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome
Background Marfan syndrome (MFS) is a multisystem disease with a unique combination of skeletal, cardiovascular and ocular features. Geleophysic/acromicric dysplasias (GPHYSD/ACMICD), characterised by short stature and extremities, are described as ‘the mirror image’ of MFS. The numerous FBN1 pathog
Conceptio Open Archive
Analyze & explore related research in Conceptio
Connect this record directly into your research workflow or AI agent. Explore citations across open repositories, query full text, and export structured proof bundles.
This document is indexed with metadata only: full text is not available in the archive for this record. Open the official source ↗
Related documents
- Towards Optimal Treatment of Marfan Syndrome#903595
- ZNF827 pleiotropic cardiovascular risk locus involves regulation by nuclear factor-1#1312962
- Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome#917768
- Risk Factors for Acquired Cardiovascular Disease in Adults With Congenital Heart Disease#850263
- Can I Be Sued for that? Liability risk and the Disclosure of Clinically Significant Genetic Research Findings#345849
Record · ID 1312696
Retrieved via Conceptio: every document is proof-bundled with source, license, and retrieval metadata.
Retrieved via Conceptio: every document is proof-bundled with source, license, and retrieval metadata.
Bring this data into your agent: Connect via MCP or API · 20 free credits to start · no card required
Read the Docs → · View CLI source on GitHub · Conceptio Open Knowledge Archive
Read the Docs → · View CLI source on GitHub · Conceptio Open Knowledge Archive