Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations
Abstract Background Tubulinopathies result from mutations in tubulin genes, including TUBG1, responsible for cell microtubules, are characterized by brain development abnormalities, microcephaly, early-onset epilepsy, and motor impairment. Only eleven patients with TUBG1 mutations have been previous...
Bewaard in:
| Hoofdauteurs: | , , , , |
|---|---|
| Formaat: | Boek |
| Gepubliceerd in: |
BMC,
2019-05-01T00:00:00Z.
|
| Onderwerpen: | |
| Online toegang: | Connect to this object online. |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|
Internet
Connect to this object online.3rd Floor Main Library
| Plaatsingsnummer: |
A1234.567 |
|---|---|
| Kopie 1 | Beschikbaar |