A carregar...

Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum

Whole‐exome sequencing in a female fetus detected a USP9X variant. This X‐linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with USP9X. Identifying this varia...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Lenberg, Jerica L., Pretorius, Dolores H., Rupe, Eric S., Jones, Marilyn C., Ramos, Gladys A., Andreasen, Tara S.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6452501/
https://ncbi.nlm.nih.gov/pubmed/30997057
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.2051
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!