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. |
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| 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 |
| ISSN: | 1755-8794 |
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| DOI: | 10.1186/s12920-025-02287-1 |
