Renal-Coloboma syndrome, an autosomal dominant disorder characterized by colobomatous eye defects, vesicoureteral reflux, and abnormal kidneys, results from mutations in PAX2. The purpose of this study was to identify mutations in PAX2 and understand the associated patient phenotypes. We report a se
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
✍ Scribed by Matthew Bower; Rémi Salomon; Judith Allanson; Corinne Antignac; Francesco Benedicenti; Elisa Benetti; Gil Binenbaum; Uffe B. Jensen; Pierre Cochat; Stephane DeCramer; Joanne Dixon; Regen Drouin; Marni J. Falk; Holly Feret; Robert Gise; Alasdair Hunter; Kisha Johnson; Rajiv Kumar; Marie Pierre Lavocat; Laura Martin; Vincent Morinière; David Mowat; Luisa Murer; Hiep T. Nguyen; Gabriela Peretz-Amit; Eric Pierce; Emily Place; Nancy Rodig; Ann Salerno; Sujatha Sastry; Tadashi Sato; John A. Sayer; Gerard C.P. Schaafsma; Lawrence Shoemaker; David W. Stockton; Wen-Hann Tan; Romano Tenconi; Philippe Vanhille; Abhay Vats; Xinjing Wang; Berta Warman; Richard G. Weleber; Susan M. White; Carolyn Wilson-Brackett; Dina J. Zand; Michael Eccles; Lisa A. Schimmenti; Laurence Heidet
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 269 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1059-7794
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