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SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea
Congenital chloride diarrhea is a rare cause of severe infantile diarrhea with excessive chloride excretion. Mutations in the SLC26A3 gene cause congenital chloride diarrhea. It generally becomes apparent in the neonatal period and is characterized by electrolyte imbalances, metabolic alkalosis, and...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Kare Publishing
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096564/ https://www.ncbi.nlm.nih.gov/pubmed/32231454 http://dx.doi.org/10.5152/TurkPediatriArs.2018.6929 |