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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...
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| Publicado no: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7168837/ https://ncbi.nlm.nih.gov/pubmed/32306954 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01025-x |
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