Macular and optic nerve hypoplasia in chromosome 2p partial trisomy
<p>The 2p duplication syndrome is a rare clinically heterogeneous disorder that arises from non-recurrent chromosomal rearrangements involving ~6 Mb up to ~90 Mb. The patients are characterized by a wide range of symptoms, including developmental delay, intellectual disability, distinctive fac...
Wedi'i Gadw mewn:
| Prif Awdur: | |
|---|---|
| Awduron Eraill: | , , |
| Cyhoeddwyd: |
2025
|
| Pynciau: | |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|