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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保存先:
書誌詳細
出版年:PLoS One
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2015
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4646464/
https://ncbi.nlm.nih.gov/pubmed/26571382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0142843
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