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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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Publicado no: | Neuroophthalmology |
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Main Authors: | , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Taylor & Francis
2017
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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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