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...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Book |
| Published: |
Wiley,
2023-06-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
|---|---|
| Copy 1 | Available |