Article
Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.
PloS one - 1 Jan 2015
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
Abstract excerpt
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 candidate genes, patient genes were screened using next-generation sequence analysis, and candidate mutations were...
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