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...

תיאור מלא

מידע ביבליוגרפי

Principais autores:	Shreenidhi Ranganatha Subramaniam, Lam Fung Yeung, L. Y. Lois Choy, Jeffrey Sung Shing Kwok
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Wiley 2024-02-01
סדרה:	Clinical Case Reports
נושאים:	arterial dissection case report COL3A1 Ehlers‐Danlos syndrome vascular Ehlers‐Danlos syndrome
גישה מקוונת:	https://doi.org/10.1002/ccr3.8517
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!