Associated Papers
Novel TP53RK variants cause varied clinical features of Galloway-Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients.
Chen J et al.
Frontiers in Molecular Neuroscience, 2023
A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.
Hyun HS et al.
Bmc Medical Genetics, 2018
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA et al.
Nature Genetics, 2017
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