Novel monogenic causes of Galloway–Mowat syndrome
نویسندگان
چکیده
منابع مشابه
Leigh syndrome: One disorder, more than 75 monogenic causes.
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations in >75 genes have been identified, encoded by 2 genomes (mitochondrial and nuclear). More than one-third of these disease genes have been characterized in the past 5 years alone, reflecting the significant advances made...
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Advances in gene discovery methodologies and the analysis of samples from large cohorts of families have rapidly increased our knowledge of the number of genes that cause mental retardation. To date, over 80 genes on the X chromosome have been identified where a mutation results in a syndromic or non-syndromic form of the disease. Although the X chromosome may harbour a disproportionate number ...
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Glomerular disease is a common cause for proteinuria and chronic kidney disease leading to end-stage renal disease requiring dialysis or kidney transplantation in children. Nephrotic syndrome in children is diagnosed by the presence of a triad of proteinuria, hypoalbuminemia, and edema. Minimal change disease is the most common histopathological finding in children and adolescents with nephroti...
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BACKGROUND AND OBJECTIVES In steroid-resistant nephrotic syndrome (SRNS), >21 single-gene causes are known. However, mutation analysis of all known SRNS genes is time and cost intensive. This report describes a new high-throughput method of mutation analysis using a PCR-based microfluidic technology that allows rapid simultaneous mutation analysis of 21 single-gene causes of SRNS in a large num...
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ژورنال
عنوان ژورنال: Nature Reviews Nephrology
سال: 2017
ISSN: 1759-5061,1759-507X
DOI: 10.1038/nrneph.2017.130