Cargando…
Behavioral signs of CHARGE syndrome and CHD7 mutational spectrum
INTRODUCTION: CHARGE syndrome is a genetic entity caused by mutations in the chromodomain helicase DNA-binding protein 7 gene (CHD7) at 8q12.1. There are pleiotropic signs among individuals with this disorder. Diagnosis is clinical using medical criteria. CHD7 gene mutations are usually found in 90%...
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cambridge University Press
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10434610/ http://dx.doi.org/10.1192/j.eurpsy.2023.767 |