Article
Mutations in HPSE2 cause urofacial syndrome.
American journal of human genetics - 11 Jun 2010
Daly Sarah B, Urquhart Jill E, Hilton Emma, McKenzie Edward A, Kammerer Richard A, Lewis Malcolm, Kerr Bronwyn, Stuart Helen, Donnai Dian, Long David A, Burgu Berk, Aydogdu Ozgu, Derbent Murat, Garcia-Minaur Sixto, Reardon Willie, Gener Blanca, Shalev Stavit, Smith Rupert, Woolf Adrian S, Black Graeme C, Newman William G
Abstract excerpt
Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. UFS individuals often have...
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