Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report

BACKGROUND: LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset renal failure, as well as bilateral microcoria. NPHP1 mutations cause familial juvenile nephronophthisis type 1 (NPH...

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Detalles Bibliográficos
Autores principales: Qiu, Liru, Zhou, Jianhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802576/
https://www.ncbi.nlm.nih.gov/pubmed/27004562
http://dx.doi.org/10.1186/s12887-016-0583-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802576/
https://www.ncbi.nlm.nih.gov/pubmed/27004562
http://dx.doi.org/10.1186/s12887-016-0583-0

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