Associated Papers
Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review.
Chen D et al.
Molecular Genetics & Genomic Medicine, 2025
39924725 (PubMed )
Supplement: MGG3-13-e70053-s002.xlsx › Sheet1
Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
Zhang Y et al.
Pediatric Nephrology (berlin, Germany), 2021
De novo MYH9 mutation in congenital scalp hemangioma.
Fomchenko EI et al.
Cold Spring Harbor Molecular Case Studies, 2018
29903892 (PubMed )
Supplement: supp_mcs.a002998_Supplemental_Table2.xlsx › Sheet3
[Comparison of phenotypic features between patients with X-linked and autosomal recessive Alport syndrome].
Wang F et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2014
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.
Zhang Y et al.
American Journal of Medical Genetics. Part A, 2012
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