Clinical Case of Rare Genetic Disorder (Proud Syndrome) in a Child
Background. Proud syndrome is rare inherited disease with X-linked inheritance associated with mutations in the homeobox gene ARX. Typical clinical signs of this syndrome are severe mental retardation, intractable epilepsy, agenesis (dysgenesis) of corpus callosum. Less common features are genital a...
Gespeichert in:
Hauptverfasser: | , , , , , , , , |
---|---|
Format: | Buch |
Veröffentlicht: |
Union of pediatricians of Russia,
2024-05-01T00:00:00Z.
|
Schlagworte: | |
Online-Zugang: | Connect to this object online. |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
Online
Connect to this object online.3rd Floor Main Library
Signatur: |
A1234.567 |
---|---|
Exemplar 1 | Verfügbar |