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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...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3045371/ https://www.ncbi.nlm.nih.gov/pubmed/21303521 http://dx.doi.org/10.1186/1755-8166-4-5 |