Ara
Toplam kayıt 1, listelenen: 1-1
Mutations In Keops-Complex Genes Cause Nephrotic Syndrome With Primary Microcephaly
(Nature Publishing Group, 2017)
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in ...