4 Matching Annotations
  1. Apr 2017
    1. We established a cohort of invasive breast cancer patients diagnosed younger than age 50 years in 10 Dutch hospitals between 1970 and 2003

      Great sized cohort: 6478 breast carrier patients. 3.2% BRCA1 carriers and 1.2% BRCA2.

    1. Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney

      This is an astonishingly rare disease.