טוען...
Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report
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 disease. Th...
שמור ב:
| הוצא לאור ב: | BMC Pediatr |
|---|---|
| Main Authors: | , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2019
|
| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6330408/ https://ncbi.nlm.nih.gov/pubmed/30635044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1390-1 |
| תגים: |
הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!
|