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

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

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.To investigate the incidence and effects of mutations of PAX2 and 25 candidate genes, pati...

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Main Authors: Toshiya Okumura, Kengo Furuichi, Tomomi Higashide, Mayumi Sakurai, Shin-Ichi Hashimoto, Yasuyuki Shinozaki, Akinori Hara, Yasunori Iwata, Norihiko Sakai, Kazuhisa Sugiyama, Shuichi Kaneko, Takashi Wada
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4646464?pdf=render

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