Article
HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.
Nephron - 1 Jan 2015
Bulum Burcu, Özçakar Z Birsin, Duman Duygu, Cengiz Filiz Başak, Kavaz Aslı, Burgu Berk, Baskın Esra, Çakar Nilgün, Soygür Tarkan, Ekim Mesiha, Tekin Mustafa, Yalçınkaya Fatoş
Abstract excerpt
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 been reported in UFS patients. Non-neurogenic neurogenic bladder (NNNB) has a bladder identical to UFS without typical facial features. The aim of this study was to analyse HPSE2 mutations in...
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