HIGHLIGHTS
- who: Julia Hoefele from the Giannina Gaslini Institute (IRCCS), Italy Georgetown University, United States have published the Article: The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience, in the Journal: (JOURNAL)
- what: The focus of this study was the reevaluation of the clinical phenotype and the reanalysis of exome sequencing data of 60 individuals with disease-causing variants in COL4A3-5 to evaluate and highlight the shortcomings of the current nomenclature of AS/TBMN. Study population For this study, a cohort of 60 index cases of unrelated . . .
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