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Delineation variable genotype/phenotype correlations of 6q27 terminal deletion derived from dic(6;18)(q27;p10)
BACKGROUND: Terminal deletion of 6q27 produces a rare syndrome associated with unexplained mental retardation, hypotonia, epilepsy, and multiple malformations. Structural brain malformations are consistently observed, including agenesis of the corpus callosum, hydrocephalus, periventricular nodular...
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| Published in: | Mol Cytogenet |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
BioMed Central
2014
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4243269/ https://ncbi.nlm.nih.gov/pubmed/25426168 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0078-3 |
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