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Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations.

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Title: Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations.
Authors: Lince-Rivera I; Pediatric Neurology Resident, Universidad Militar Nueva Granada, Bogotá, Colombia., Martinez-Córdoba N; Pediatric Neurology Resident, Universidad Militar Nueva Granada, Bogotá, Colombia., Ramón-Gómez JL; Pediatric Neurologist, Instituto Roosevelt, Bogotá, Colombia., Cabarcas L; Pediatric Neurologist, Instituto Roosevelt, Bogotá, Colombia., Zarante-Bahamón AM; Medical Genetics Unit, Hospital Universitario San Ignacio/Pontifica Universidad Javeriana, Clinical Geneticist, Instituto Roosevelt, Carrera 4 Este #17-50, Bogotá, Colombia. anazarante@gmail.com.
Source: BMC medical genomics [BMC Med Genomics] 2026 Apr 11; Vol. 19 (1). Date of Electronic Publication: 2026 Apr 11.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations.
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  Data: <searchLink fieldCode="AU" term="%22Lince-Rivera+I%22">Lince-Rivera I</searchLink>; Pediatric Neurology Resident, Universidad Militar Nueva Granada, Bogotá, Colombia.<br /><searchLink fieldCode="AU" term="%22Martinez-Córdoba+N%22">Martinez-Córdoba N</searchLink>; Pediatric Neurology Resident, Universidad Militar Nueva Granada, Bogotá, Colombia.<br /><searchLink fieldCode="AU" term="%22Ramón-Gómez+JL%22">Ramón-Gómez JL</searchLink>; Pediatric Neurologist, Instituto Roosevelt, Bogotá, Colombia.<br /><searchLink fieldCode="AU" term="%22Cabarcas+L%22">Cabarcas L</searchLink>; Pediatric Neurologist, Instituto Roosevelt, Bogotá, Colombia.<br /><searchLink fieldCode="AU" term="%22Zarante-Bahamón+AM%22">Zarante-Bahamón AM</searchLink>; Medical Genetics Unit, Hospital Universitario San Ignacio/Pontifica Universidad Javeriana, Clinical Geneticist, Instituto Roosevelt, Carrera 4 Este #17-50, Bogotá, Colombia. anazarante@gmail.com.
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  Data: <searchLink fieldCode="JN" term="%22101319628%22">BMC medical genomics</searchLink> [BMC Med Genomics] 2026 Apr 11; Vol. 19 (1). <i>Date of Electronic Publication: </i>2026 Apr 11.
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  Data: Journal Article; Case Reports
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101319628 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-8794 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217558794%22">17558794 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genomics <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s12920-025-02287-1
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              Text: 2026 Apr 11
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