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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...

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Detalles Bibliográficos
Autores principales: Doğan, Erkan, Sevinç, Eylem, Göktaş, Mehmet Akif, Ekmen, Sadrettin, Yıldız, Nihal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2020
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