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 for prevention of life-threatening complications in the patient and family members.
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| http://dx.doi.org/10.1002/ccr3.8517 | DOI Listing |
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