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LRIG2 mutations cause urofacial syndrome
Stuart, Helen; Roberts, Neil; Burgu, Berk; Daly, Sarah; Urquhart, Jill; Bhaskar, Sanjeev; Dickerson, Jonathan; Mermerkaya, Murat; Silay, Mesrur Selcuk; Lewis, Malcolm; Orive Olondriz, Beatriz; Gener, Blanca; Beetz, Christian; Varga, Rita Eva; Gülpnar, Ömer; Süer, Evren; Soygür, Tarkan; Özçakar Birsin, Zeynep; Yalçnkaya, Fatoş; Kavaz, Aslı; Bulum, Burcu; Gücük, Adnan; Yue, Wyatt; Erdogan, Fırat; Berry, Andrew; Hanley, Neil; McKenzie, Edward; Hilton, Emma; Woolf, Adrian; Newman, William (2013)Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression ...