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Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.

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Title: Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.
Authors: Del Valle-Peréz M; Grupo Infettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín, Colombia., Mejía-García A; Grupo de Genética Molecular (GENMOL), Facultad de Ciencias Exactas y Naturales (FCEN), Universidad de Antioquia, Medellín, Colombia., Echeverri-López D; Grupo Infettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín, Colombia., Gallo-Bonilla K; Grupo Infettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín, Colombia., Tejada-Moreno JA; Grupo de Genética Molecular (GENMOL), Facultad de Ciencias Exactas y Naturales (FCEN), Universidad de Antioquia, Medellín, Colombia., Villegas-Lanau A; Grupo de Genética Molecular (GENMOL), Facultad de Ciencias Exactas y Naturales (FCEN), Universidad de Antioquia, Medellín, Colombia., Chvatal-Medina M; Grupo Inmunovirología, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia., Restrepo JE; Grupo OBSERVATOS, Facultad de Educación Y Ciencias Sociales, Tecnológico de Antioquia - Institución Universitaria, Medellín, Colombia., Cuartas-Montoya G; Facultad de Psicología, Grupo Neurociencia Y Cognición, Universidad Cooperativa de Colombia, Medellín, Colombia., Zapata-Builes W; Grupo Infettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín, Colombia. wildeman.zapatab@campusucc.edu.co.
Source: Journal of applied genetics [J Appl Genet] 2025 Sep; Vol. 66 (3), pp. 637-646. Date of Electronic Publication: 2024 Aug 16.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Springer Country of Publication: England NLM ID: 9514582 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2190-3883 (Electronic) Linking ISSN: 12341983 NLM ISO Abbreviation: J Appl Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.
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  Data: <searchLink fieldCode="AU" term="%22Del+Valle-Peréz+M%22">Del Valle-Peréz M</searchLink>; Grupo Infettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín, Colombia.<br /><searchLink fieldCode="AU" term="%22Mejía-García+A%22">Mejía-García A</searchLink>; Grupo de Genética Molecular (GENMOL), Facultad de Ciencias Exactas y Naturales (FCEN), Universidad de Antioquia, Medellín, Colombia.<br /><searchLink fieldCode="AU" term="%22Echeverri-López+D%22">Echeverri-López D</searchLink>; Grupo Infettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín, Colombia.<br /><searchLink fieldCode="AU" term="%22Gallo-Bonilla+K%22">Gallo-Bonilla K</searchLink>; Grupo Infettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín, Colombia.<br /><searchLink fieldCode="AU" term="%22Tejada-Moreno+JA%22">Tejada-Moreno JA</searchLink>; Grupo de Genética Molecular (GENMOL), Facultad de Ciencias Exactas y Naturales (FCEN), Universidad de Antioquia, Medellín, Colombia.<br /><searchLink fieldCode="AU" term="%22Villegas-Lanau+A%22">Villegas-Lanau A</searchLink>; Grupo de Genética Molecular (GENMOL), Facultad de Ciencias Exactas y Naturales (FCEN), Universidad de Antioquia, Medellín, Colombia.<br /><searchLink fieldCode="AU" term="%22Chvatal-Medina+M%22">Chvatal-Medina M</searchLink>; Grupo Inmunovirología, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.<br /><searchLink fieldCode="AU" term="%22Restrepo+JE%22">Restrepo JE</searchLink>; Grupo OBSERVATOS, Facultad de Educación Y Ciencias Sociales, Tecnológico de Antioquia - Institución Universitaria, Medellín, Colombia.<br /><searchLink fieldCode="AU" term="%22Cuartas-Montoya+G%22">Cuartas-Montoya G</searchLink>; Facultad de Psicología, Grupo Neurociencia Y Cognición, Universidad Cooperativa de Colombia, Medellín, Colombia.<br /><searchLink fieldCode="AU" term="%22Zapata-Builes+W%22">Zapata-Builes W</searchLink>; Grupo Infettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín, Colombia. wildeman.zapatab@campusucc.edu.co.
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  Data: <searchLink fieldCode="JN" term="%229514582%22">Journal of applied genetics</searchLink> [J Appl Genet] 2025 Sep; Vol. 66 (3), pp. 637-646. <i>Date of Electronic Publication: </i>2024 Aug 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9514582 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2190-3883 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2212341983%22">12341983 </searchLink><i>NLM ISO Abbreviation: </i>J Appl Genet <i>Subsets: </i>MEDLINE
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              Text: 2025 Sep
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