Article
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.
PLoS genetics - 5 Mar 2010
Alur Ramakrishna P, Vijayasarathy Camasamudram, Brown Jacob D, Mehtani Mohit, Onojafe Ighovie F, Sergeev Yuri V, Boobalan Elangovan, Jones Marypat, Tang Ke, Liu Haiquan, Xia Chun-Hong, Gong Xiaohua, Brooks Brian P
Abstract excerpt
Papillorenal syndrome (PRS, also known as renal-coloboma syndrome) is an autosomal dominant disease characterized by potentially-blinding congenital optic nerve excavation and congenital kidney abnormalities. Many patients with PRS have mutations in the paired box transcription factor gene, PAX2. Although most mutations in PAX2 are predicted to result in complete loss of one allele's function, three missense...
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