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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Archive ouverte | Connaughton, Dervla, M | CCSD

International audience. Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first three...

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Archive ouverte | Lopez-Rivera, Esther | CCSD

International audience. Background: The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions ...

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Archive ouverte | Mollet, Geraldine | CCSD

International audience. 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 iden...

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