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Results 1 - 2 of 2 for Urofacial syndrome 2
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  1. HPSE2 gene 
    ... identified in people with Ochoa syndrome (also called urofacial syndrome), a disorder that causes urinary problems and unusual facial expressions. These mutations result in changes in the heparanase 2 protein that likely prevent it from functioning. The ...
    https://medlineplus.gov/genetics/gene/hpse2 - Genetics
  2. Ochoa syndrome 
    ... Black GC, Newman WG. Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet. 2010 Jun 11;86(6):963-9. doi: 10.1016/j.ajhg.2010.05.006. Erratum In: Am J Hum Genet. 2010 Aug 13;87(2):309. Citation on PubMed or Free article on ...
    https://medlineplus.gov/genetics/condition/ochoa-syndrome - Genetics