Urofacial syndrome
Definition:
References:
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[1]. Helen M Stuart, et al. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet. 2013 Feb 7;92(2):259-64. [Content Brief]
[2]. Junfeng Pang, et al. Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. Am J Hum Genet. 2010 Jun 11;86(6):957-62. [Content Brief]
[3]. S Mahmood, et al. First HPSE2 missense mutation in urofacial syndrome. Clin Genet. 2012 Jan;81(1):88-92. [Content Brief]
[4]. Sarah B Daly, et al. Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet. 2010 Jun 11;86(6):963-9. [Content Brief]
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