Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome
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DOI: 10.1002/humu.24472
Abstract: Galloway–Mowat syndrome (GAMOS) is a very rare condition characterized by early‐onset nephrotic syndrome and microcephaly with variable neurologic features. While considerable genetic heterogeneity of GAMOS has been identified, the majority of cases are caused by… read more here.
Keywords: novel tp53rk; mowat syndrome; mutation; tp53rk ... See more keywords