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Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7

AIM: Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay. METHODS: Phenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to...

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Autors principals: Tsai, Li-Ping, Lee, Kuei-Fang, Fang, Jye-Siung, Liu, Ingrid Y
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2011
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3045371/
https://ncbi.nlm.nih.gov/pubmed/21303521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-4-5
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