A carregar...
Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome
Xia-Gibbs syndrome is an autosomal dominant multisystem developmental disorder characterized by global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cysts, delayed myelination, micrognathia, and mild dysmorphic features. Using whole-exome sequencing, we identifie...
Na minha lista:
| Publicado no: | Mol Syndromol |
|---|---|
| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2017
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5701272/ https://ncbi.nlm.nih.gov/pubmed/29230160 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000479357 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|