Novel TP53RK variants cause varied clinical features of Galloway-Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients.
Frontiers in molecular neuroscience(2023)
摘要
The clinical characteristics of the three children with mutations are significantly different from the known GAMOS4 traits, including early nephrotic syndrome and mortality mainly occurring in the first year of life. This study provides insights into the pathogenic gene mutation spectrum and clinical phenotypes of GAMOS4.
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关键词
Galloway–Mowat syndrome,TP53RK gene,global developmental delays,nephrotic syndrome,proteinuria
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