Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome

BACKGROUND: Renal coloboma syndrome (RCS) is characterized by renal anomalies and optic nerve colobomas. PAX2 mutations contribute to RCS. However, approximately half of the patients with RCS have no mutation in PAX2 gene. METHODS: To investigate the incidence and effects of mutations of PAX2 and 25...

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Detalles Bibliográficos
Autores principales: Okumura, Toshiya, Furuichi, Kengo, Higashide, Tomomi, Sakurai, Mayumi, Hashimoto, Shin-ichi, Shinozaki, Yasuyuki, Hara, Akinori, Iwata, Yasunori, Sakai, Norihiko, Sugiyama, Kazuhisa, Kaneko, Shuichi, Wada, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4646464/
https://www.ncbi.nlm.nih.gov/pubmed/26571382
http://dx.doi.org/10.1371/journal.pone.0142843

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