PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports

Paired box 2 (PAX2)-related disorder is an autosomal dominant genetic disorder associated with kidney and eye abnormalities and can result in end stage renal disease (ESRD). Despite reported low prevalence of PAX2 mutations, the prevalence of PAX2 related disorders may have been underestimated in pa...

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Detalles Bibliográficos
Autores principales: Chang, Yu-Ming, Chen, Chih-Chia, Lee, Ni-Chung, Sung, Junne-Ming, Chou, Yen-Yin, Chiou, Yuan-Yow
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8787321/
https://www.ncbi.nlm.nih.gov/pubmed/35087773
http://dx.doi.org/10.3389/fped.2021.765929

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8787321/
https://www.ncbi.nlm.nih.gov/pubmed/35087773
http://dx.doi.org/10.3389/fped.2021.765929

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