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Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome

Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an autosomal dominant disease characterised by the presence of congenital renal and optic nerve abnormalities associated with mutations of the PAX2 gene. In this article, the authors present four patients with PAPRS who are...

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Detalhes bibliográficos
Publicado no:Neuroophthalmology
Main Authors: Galvez-Ruiz, Alberto, Lehner, Anthony J., Galindo-Ferreiro, Alicia, Schatz, Patrik
Formato: Artigo
Idioma:Inglês
Publicado em: Taylor & Francis 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5762175/
https://ncbi.nlm.nih.gov/pubmed/29339962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/01658107.2017.1307995
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