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...

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Detalles Bibliográficos
Autores principales: Kachmar, Jessica, El-Haffaf, Zaki, Bollée, Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Educational Case Report
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

Internet

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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