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A case report of NPHP1 deletion in Chinese twins with nephronophthisis
BACKGROUND: Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life. As an inherited disorder with highly genetic heterogeneity and clinical prese...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168837/ https://www.ncbi.nlm.nih.gov/pubmed/32306954 http://dx.doi.org/10.1186/s12881-020-01025-x |