Table 1 Estimation of the frequencies of de novo vEDS cases and COL3A1 mosaicism
From: Frequency of de novo variants and parental mosaicism in vascular Ehlers–Danlos syndrome
De novo cases | Inherited cases | Frequency of de novo cases (%) | |
|---|---|---|---|
Apparent | 90 | 87 | 50.8 |
Confirmed | 36 | 49 | 42.4 |
Mosaic | De novo cases | Frequency of mosaicism (%) | |
Apparent | 1 | 54 | 1.9 |
Confirmed | 1 | 36 | 2.8 |
