Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case
Baclground. Pathogenic variants of the CREBBP gene have been revealed in patients with Rubinstein-Taybi and Menke-Hennekam syndromes, however, the toe walking symptom was not mentioned in these pathologies.Clinical Case Description. The pathogenic nucleotide variant c.5600G>A in heterozygous stat...
Bewaard in:
| Hoofdauteurs: | , , , , |
|---|---|
| Formaat: | Boek |
| Gepubliceerd in: |
"Paediatrician" Publishers LLC,
2021-10-01T00:00:00Z.
|
| 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 |