A novel mutation associated with Type  III Bartter syndrome: A report of five cases.

In conclusion, five cases of type III BS in patients from mainland China were reported. Large deletions were frequently detected, particularly in early‑onset patients; isolated IGF‑1 deficiency was found, one novel sequence variant was identified. Prenatal diagnosis was successfully established using genetic analysis of cultured amniocytes, and may facilitate the prevention of congenital defect of type III BS in the next pregnancy. PMID: 31115572 [PubMed - as supplied by publisher]
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research