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...

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Detalles Bibliográficos
Autores principales: Stödberg, Tommy, Magnusson, Måns, Lesko, Nicole, Wredenberg, Anna, Martin Munoz, Daniel, Stranneheim, Henrik, Wedell, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357422/
https://www.ncbi.nlm.nih.gov/pubmed/32754646
http://dx.doi.org/10.1212/NXG.0000000000000478

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357422/
https://www.ncbi.nlm.nih.gov/pubmed/32754646
http://dx.doi.org/10.1212/NXG.0000000000000478

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