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Atypical ADPKD Due to a DNAJB11 Pathogenic Variant: An Educational Case Report
RATIONALE: Due to next-generation sequencing, variants in new genes such as DNAJB11 are recently being identified as causing atypical autosomal dominant polycystic kidney disease (ADPKD). It is important to describe phenotypes associated with these variants in order to increase awareness among clini...
Autores principales: | Kachmar, Jessica, El-Haffaf, Zaki, Bollée, Guillaume |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10585986/ https://www.ncbi.nlm.nih.gov/pubmed/37867501 http://dx.doi.org/10.1177/20543581231203054 |
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