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Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review
BACKGROUND: Since 1969, 49 cases have been presented on ring chromosome 4. All of these cases have been characterized for the loss of genetic material. The genes located in these chromosomal regions are related to the phenotype. CASE PRESENTATION: A 10-year-old Ecuadorian Mestizo girl with ring chro...
Autores principales: | Paz-y-Miño, César, Proaño, Ana, Verdezoto, Stella D., García, Juan Luis, Hernández-Rivas, Jesús María, Leone, Paola E. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7087353/ https://www.ncbi.nlm.nih.gov/pubmed/32293439 http://dx.doi.org/10.1186/s12920-019-0614-4 |
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