Загрузка...
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...
Сохранить в:
| Опубликовано в: : | Neurol Genet |
|---|---|
| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Wolters Kluwer
2020
|
| Предметы: | |
| Online-ссылка: | 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 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|