Author:
Liu Bei,Chen Mengjia,Yang Yanmei,Huang Yingzhi,Qian Yeqing,Dong Minyue
Funder
Natural Science Foundation of Zhejiang Province
Zhejiang Province Science and Technology Department
Key Technology Research and Development Program of Shandong
National Natural Science Foundation of China
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference33 articles.
1. Renal coloboma syndrome;Schimmenti;Eur. J. Hum. Genet.,2011
2. M.A. Bower, Schimmenti, L.A., Eccles, M.R., PAX2-Related Disorder. In: Adam, M.P., et al., editors., GeneReviews® [Internet] Seattle, WA: GeneReviews. (1993-2019).
3. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database;Bower;Hum. Mutat.,2012
4. Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human;Alur;PLoS Genet.,2010
5. Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies;Schimmenti;Am. J. Med. Genet.,1995