Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family

BACKGROUND: Nephronophthisis (NPHP) is an autosomal recessive hereditary disease with highly variable clinical characteristics for which 20 genes (NPHP1–20) have been identified. NPHP1 is the major subtype leading to pediatric end-stage renal disease (ESRD). Reports of adult NPHP1 are rare. CASE PRE...

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Detalles Bibliográficos
Autores principales: Wang, Yiting, Chen, Feng, Wang, Jiali, Zhao, Yingwang, Liu, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524295/
https://www.ncbi.nlm.nih.gov/pubmed/31096956
http://dx.doi.org/10.1186/s12882-019-1372-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524295/
https://www.ncbi.nlm.nih.gov/pubmed/31096956
http://dx.doi.org/10.1186/s12882-019-1372-4

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