A carregar...

EFTUD2 deficiency in vertebrates: identification of a novel human mutation and generation of a zebrafish model

BACKGROUND: Congenital microphthalmia and coloboma are severe developmental defects that are frequently associated with additional systemic anomalies and display a high level of genetic heterogeneity. METHODS: To identify the pathogenic variant in a patient with microphthalmia, coloboma, retinal dys...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Birth Defects Res A Clin Mol Teratol
Main Authors: Deml, Brett, Reis, Linda M., Muheisen, Sanaa, Bick, David, Semina, Elena V.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4487781/
https://ncbi.nlm.nih.gov/pubmed/26118977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/bdra.23397
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!