A carregar...
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia
OBJECTIVE: To describe the phenotype in 2 sisters with a rare constellation of neurologic symptoms and secretory impairments and to identify the etiology by the use of whole-genome sequencing (WGS). METHODS: After an extensive workup failed to reveal the cause of disease, in a girl with a previously...
Na minha lista:
| Publicado no: | Neurol Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7357422/ https://ncbi.nlm.nih.gov/pubmed/32754646 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000478 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|