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Human Mutation, ISSN 1059-7794, 03/2012, Volume 33, Issue 3, pp. 457 - 466
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2015, Volume 10, Issue 11, pp. e0142843 - e0142843
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 9/2007, Volume 22, Issue 9, pp. 1283 - 1289
Journal Article
Human Mutation, ISSN 1059-7794, 03/2012, Volume 33, Issue 3, p. 66
Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in... 
Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Humans | Databases, Genetic | PAX2 Transcription Factor/genetics | Medicinsk genetik | Medical Genetics | Animals | Coloboma/genetics | Medicinska och farmaceutiska grundvetenskaper | Renal Insufficiency/genetics | Vesico-Ureteral Reflux/genetics
Journal Article
Experimental and Clinical Transplantation, ISSN 1304-0855, 2014, Volume 12, Issue 2, pp. 162 - 164
To our knowledge, this is the first report of an ABO-incompatible living-donor renal transplant without a splenectomy performed in a patient with renal... 
ABO-incompatible | Renal transplant | Renal coloboma syndrome | PAX2 MUTATIONS | PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY | TRANSPLANTATION
Journal Article
Clinical Kidney Journal, ISSN 2048-8505, 2013, Volume 6, Issue 4, pp. 410 - 413
Renal coloboma syndrome (RCS) is a rare inherited condition exhibiting a variable clinical phenotype of renal and ocular abnormalities. In 50% of cases,... 
pax2 mutation | morning glory anomaly | renal coloboma syndrome | end-stage renal disease | Original Contributions
Journal Article
Clinical Pediatric Endocrinology, ISSN 0918-5739, 2013, Volume 22, Issue 3, pp. 45 - 51
Renal coloboma syndrome is an autosomal dominant condition characterized by renal lesions and optic nerve abnormalities. We report an 11-yr-old Japanese girl... 
mutation | renal coloboma syndrome | Graves' disease | PAX2 | Mutation | Renal coloboma syndrome | Graves’ disease | Case Report
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2000, Volume 8, Issue 11, pp. 820 - 826
Journal Article
Development (Cambridge, England), ISSN 0950-1991, 11/2018, Volume 145, Issue 22, p. dev165068
Establishment of precise three-dimensional tissue structure is vital for organ function. In the visual system, optic fissure and stalk morphogenesis is a... 
Eye | Morphogenesis | Coloboma | Hedgehog signaling | Zebrafish | Ptch2 | GENETIC-ANALYSIS | MOUSE | DEVELOPMENTAL DEFECTS | CLOSURE | ZEBRAFISH SONIC HEDGEHOG | MECHANISMS | DEVELOPMENTAL BIOLOGY | FAMILY | RENAL-COLOBOMA SYNDROME | MUTATIONS | OCULAR COLOBOMA | Index Medicus
Journal Article
Expert Review of Ophthalmology, ISSN 1746-9899, 2009, Volume 4, Issue 2, pp. 135 - 144
Renal coloboma syndrome, also known as papillorenal syndrome, is characterized by optic nerve anomalies and kidney hypodysplasia. Autosomal dominant mutations... 
Optic nerve dysplasia | Optic nerve coloboma | Papillorenal syndrome | PAX2 | Renal coloboma syndrome | Hypoplasia | End-stage renal disease | Pattern formation | Transcription factors | Optic nerve | Blood vessels | Optics | Retina | Kidney | Acuity | Cysts | Mutation | Pax2 protein | Microphthalmia
Journal Article