Loeys-Dietz syndrome
Name: |
Loeys-Dietz syndrome
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Description: |
Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.
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ORPHAcode: |
60030
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Synonyms: |
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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