Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes

BACKGROUND: Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal disorder causes severe dehydration and electrolyte disturbanc...

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Detalles Bibliográficos
Autores principales: Lindberg, Eva, Moller, Claes, Kere, Juha, Wedenoja, Satu, Anderzén-Carlsson, Agneta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160968/
https://www.ncbi.nlm.nih.gov/pubmed/32295532
http://dx.doi.org/10.1186/s12881-020-01023-z

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