Raising awareness of TBC1 domain‐containing kinase (TBCK) epileptic encephalopathy among Puerto Rican children
Abstract Background TBC1 domain‐containing kinase (TBCK) syndrome is a rare autosomal recessive genetic disorder that presents with infantile hypotonia, intellectual disability, motor impairment, and drug‐resistant epilepsy. The abnormal TBCK protein alters the mammalian target of rapamycin complex...
Gorde:
| Egile Nagusiak: | , , |
|---|---|
| Formatua: | Liburua |
| Argitaratua: |
Wiley,
2023-06-01T00:00:00Z.
|
| Gaiak: | |
| Sarrera elektronikoa: | Connect to this object online. |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|
Internet
Connect to this object online.3rd Floor Main Library
| Sailkapena: |
A1234.567 |
|---|---|
| Alea 1 | Eskuragarri |