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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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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Paz-y-Miño, César, Proaño, Ana, Verdezoto, Stella D., García, Juan Luis, Hernández-Rivas, Jesús María, Leone, Paola E.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7087353/
https://ncbi.nlm.nih.gov/pubmed/32293439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0614-4
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