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Congenital cataract and congenital chloride diarrhoea—a unique combination and antenatal diagnosis
Congenital chloride diarrhoea (CCD) is a serious inherited defect of intestinal electrolyte absorption transmitted in an autosomal recessive way. The molecular pathology involves an epithelial Cl(-)/HCO(3)(-) exchanger protein, encoded by the solute carrier family 26 member 3 gene (SLC26A3) and know...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Publishing Group
2009
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3029539/ https://ncbi.nlm.nih.gov/pubmed/21847417 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.04.2009.1775 |
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