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HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction
Bulum, Burcu; Ozcakar, Z. Birsin; Duman, Duygu; Cengiz, Filiz Basak; Kavaz, Asli; Burgu, Berk; Baskin, Esra; Cakar, Nilgun; Soygur, Tarkan; Ekim, Mesiha; Tekin, Mustafa; Yalcinkaya, Fatos (2015)Background: Urofacial syndrome (UFS) is characterised by congenital bladder dysfunction accompanied by a characteristic abnormal grimace upon smiling and crying. In recent years, biallelic mutations of HPSE2 and LRIG2 have ...