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The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation
BACKGROUND: About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element disruption, and cryptic imbalances on rearranged chromosomes. Rare familial BCRs segregating with clinical features are a powerful source for...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696321/ https://www.ncbi.nlm.nih.gov/pubmed/26719771 http://dx.doi.org/10.1186/s13039-015-0205-9 |