Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report
Abstract Background Congenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal recessively inherited condition characterized by watery diarrhea, hypochloremia and metabolic alkalosis. Mutations of the solute carrier family 26, member 3 (SLC26A3, OMIM 126650) gene are responsible for the dis...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Book |
| Published: |
BMC,
2019-01-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|