Author:
Stuart Helen M.,Roberts Neil A.,Hilton Emma N.,McKenzie Edward A.,Daly Sarah B.,Hadfield Kristen D.,Rahal Jeffery S.,Gardiner Natalie J.,Tanley Simon W.,Lewis Malcolm A.,Sites Emily,Angle Brad,Alves Cláudia,Lourenço Teresa,Rodrigues Márcia,Calado Angelina,Amado Marta,Guerreiro Nancy,Serras Inês,Beetz Christian,Varga Rita-Eva,Silay Mesrur Selcuk,Darlow John M.,Dobson Mark G.,Barton David E.,Hunziker Manuela,Puri Prem,Feather Sally A.,Goodship Judith A.,Goodship Timothy H.J.,Lambert Heather J.,Cordell Heather J.,Saggar Anand,Kinali Maria,Lorenz Christian,Moeller Kristina,Schaefer Franz,Bayazit Aysun K.,Weber Stefanie,Newman William G.,Woolf Adrian S., ,
Publisher
American Society of Nephrology (ASN)
Subject
Nephrology,General Medicine
Reference29 articles.
1. Online Mendelian Inheritance in Man. Available at: http://www.ncbi.nlm.nih.gov/omim. Accessed April 25, 2014
2. Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated
3. Newman WG, Woolf AS, Stuart HM: Urofacial syndrome. GeneReviews 1993–2013, 2013. Available at: http://www.ncbi.nlm.nih.gov/books/NBK154138/. Accessed April 24, 2014
4. Mutations in HPSE2 Cause Urofacial Syndrome
5. Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome