Associated Papers
Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.
Kim JH et al.
Scientific Reports, 2023
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.
Boeckhaus J et al.
Clinical Genetics, 2021
Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.
Bałdyga N et al.
Audiology & Neuro-otology, 2021
An overlap of Alport syndrome and rheumatoid arthritis in a patient and literature review.
Tang X et al.
Bmc Nephrology, 2019
The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome.
Macheroux EP et al.
Frontiers in Pediatrics, 2019
Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.
Lin F et al.
Bmc Nephrology, 2014
Molecular genetics of familial hematuric diseases.
Deltas C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.
Pierides A et al.
Hippokratia, 2013
The role of molecular genetics in diagnosing familial hematuria(s).
Deltas C et al.
Pediatric Nephrology (berlin, Germany), 2012
X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
Demosthenous P et al.
Clinical Genetics, 2012
[Familial nephropathy and impaired sound perception (Alport syndrome)].
Gekle D et al.
Archiv Fur Kinderheilkunde, 1969
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