Case Report: A de novo CTNNB1 Nonsense Mutation Associated With Neurodevelopmental Disorder, Retinal Detachment, Polydactyly
CTNNB1 gene mutation was firstly reported related to intellectual disability in 2012, to explore the clinical phenotype and genotype characteristics of CTNNB1 mutation, we collected and analyzed the clinical data of a child with a neurodevelopmental disorder caused by a mutation of CTNNB1. The child...
Bewaard in:
| Hoofdauteurs: | , |
|---|---|
| Formaat: | Boek |
| Gepubliceerd in: |
Frontiers Media S.A.,
2020-12-01T00:00:00Z.
|
| 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 |