Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome

Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome

Alport syndrome is inherited as an X-linked (XL), autosomal recessive (AR), or autosomal dominant (AD) disease, where pathogenic COL4A3 – COL4A5 variants affect the basement membrane collagen IV α3α4α5 network. About 50% of pathogenic variants in each gene (major rearrangements and large deletions i...

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Bibliographic Details
Main Authors: Judy Savige, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, Joel Gibson
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Medicine
Subjects:
genotype-phenotype correlation
Alport syndrome
COL4A3
COL4A4
COL4A5
XL Alport syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2022.865034/full

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https://www.frontiersin.org/articles/10.3389/fmed.2022.865034/full

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