Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers

Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers

Abstract Background Alport syndrome (AS) is the second most prevalent genetic cause of kidney failure, behind autosomal-dominant polycystic kidney disease, affecting at least one in 5000 individuals worldwide. AS is caused by COL4A3, COL4A4, and COL4A5 mutations. It is characterized as three distinc...

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Bibliographic Details
Main Authors: Ibrahim Sahin, Nefise Kandemir, Hanife Saat
Format: Article
Language:English
Published: SpringerOpen 2023-10-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Alport syndrome
COL4A3
COL4A4
COL4A5
Digenic
Genetic modifier
Online Access:https://doi.org/10.1186/s43042-023-00441-x

Internet

https://doi.org/10.1186/s43042-023-00441-x

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