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...
Spremljeno u:
| Glavni autor: | |
|---|---|
| Daljnji autori: | , , |
| Izdano: |
2025
|
| Teme: | |
| Oznake: |
Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|