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Article

Clinical and genetic characteristics for the Urofacial Syndrome (UFS).

International journal of clinical and experimental pathology - 1 Jan 2014

Tu Yaqin, Yang Ping, Yang Jia, Xu Yuchen, Xiong Fei, Yu Qilin, Gu Weikuan, Pond Dinel, Mendelsohn Nancy, Lachmeijer Guus A M A, Zhang Shu, Wang Cong-Yi

Abstract excerpt

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 or sadness when they tried to smile or laugh) along with urinary tract infection, enuresis, vesicoureteral reflux and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24966895
PMCID: PMC4069969

Genes

HPSE2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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