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Vascular Ehlers‐Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report)

Key Clinical Message Patients with null variants may have milder vascular Ehlers‐Danlos syndrome, presenting with seemingly non‐specific complaints and subtle cutaneous features that may be missed. A high index of suspicion and early genetic testing (aided by next‐generation sequencing) were crucial...

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Main Authors: Shreenidhi Ranganatha Subramaniam, Lam Fung Yeung, L. Y. Lois Choy, Jeffrey Sung Shing Kwok
Format: Artigo
Language:Inglês
Published: Wiley 2024-02-01
Series:Clinical Case Reports
Subjects:
arterial dissection
case report
COL3A1
Ehlers‐Danlos syndrome
vascular Ehlers‐Danlos syndrome
Online Access:https://doi.org/10.1002/ccr3.8517
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