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Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies

BACKGROUND: Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific...

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Detalles Bibliográficos
Autores principales: Hu, Qiping, Chai, Hongyan, Shu, Wei, Li, Peining
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828142/
https://www.ncbi.nlm.nih.gov/pubmed/29492108
http://dx.doi.org/10.1186/s13039-018-0367-3