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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...

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Detalles Bibliográficos
Autores principales: Paz-y-Miño, César, Proaño, Ana, Verdezoto, Stella D., García, Juan Luis, Hernández-Rivas, Jesús María, Leone, Paola E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
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