References

These sources were used to develop the Genetics Home Reference condition summary on Ochoa syndrome.

Al Badr W, Al Bader S, Otto E, Hildebrandt F, Ackley T, Peng W, Xu J, Li J, Owens KM, Bloom D, Innis JW. Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. J Pediatr Urol. 2011 Oct;7(5):569-73. doi: 10.1016/j.jpurol.2011.02.034. Epub 2011 Mar 29. PubMed citation
Aydogdu O, Burgu B, Demirel F, Soygur T, Ozcakar ZB, Yalcinkaya F, Tekgul S. Ochoa syndrome: a spectrum of urofacial syndrome. Eur J Pediatr. 2010 Apr;169(4):431-5. doi: 10.1007/s00431-009-1042-9. Epub 2009 Aug 11. PubMed citation
Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet. 2010 Jun 11;86(6):963-9. Erratum in: Am J Hum Genet. 2010 Aug 13;87(2):309. PubMed citation
Derbent M, Melek E, Arman A, Uçkan S, Baskin E. Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction? Ren Fail. 2009;31(7):589-92. PubMed citation
Garcia-Minaur S, Oliver F, Yanez JM, Soriano JR, Quinn F, Reardon W. Three new European cases of urofacial (Ochoa) syndrome. Clin Dysmorphol. 2001 Jul;10(3):165-70. PubMed citation
Ochoa B. Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated. Pediatr Nephrol. 2004 Jan;19(1):6-12. Epub 2003 Nov 25. Review. PubMed citation
Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY. Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. Am J Hum Genet. 2010 Jun 11;86(6):957-62. Erratum in: Am J Hum Genet. 2010 Jul 9;87(1):161. Fisher, Richard B [added]. PubMed citation
Stamatiou K, Tyritzis S, Karakos C, Skolarikos A. Urofacial syndrome: a subset of neurogenic bladder dysfunction syndromes? Urology. 2011 Oct;78(4):911-3. doi: 10.1016/j.urology.2010.12.061. Epub 2011 Apr 13. PubMed citation


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