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...
Bewaard in:
| Hoofdauteur: | |
|---|---|
| Andere auteurs: | , , |
| Gepubliceerd in: |
2025
|
| Onderwerpen: | |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|