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Clinical and genetic characteristics for the Urofacial Syndrome (UFS)

The Urofacial (Ochoa) Syndrome (UFS) is a rare autosomal recessive disorder and over 100 patients have been reported thus far. UFS is characterized by the abnormal facial expression and dysfunctional voiding. The patients show a peculiar distortion of the facial expression (grimacing as if in pain o...

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Detalhes bibliográficos
Main Authors: Tu, Yaqin, Yang, Ping, Yang, Jia, Xu, Yuchen, Xiong, Fei, Yu, Qilin, Gu, Weikuan, Pond, Dinel, Mendelsohn, Nancy, Lachmeijer, Guus AMA, Zhang, Shu, Wang, Cong-Yi
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4069969/
https://ncbi.nlm.nih.gov/pubmed/24966895
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